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
FAM229B	619208	broad.mit.edu	37	6	112420550	112420550	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:112420550G>T	ENST00000368656.2	+	3	361	c.64G>T	c.(64-66)Gag>Tag	p.E22*	FAM229B_ENST00000604268.1_Nonsense_Mutation_p.E22*	NM_001033564.1	NP_001028736.1			family with sequence similarity 229, member B																		TTCTTCAATTGAGCTGGAACC	0.448000													9	9					0.0477658	0.0492398	1	1	0
ZNF852	285346	broad.mit.edu	37	3	44541304	44541304	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:44541304G>A	ENST00000436261.1	-	4	1125	c.965C>T	c.(964-966)aCt>aTt	p.T322I	ZNF852_ENST00000489411.1_5'UTR			B6EU87	B6EU87_HUMAN	zinc finger protein 852	322					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)	8						CTTCTCCCCAGTGTGGGTTCT	0.428000													3	7					0	0	1	0	0
RASA4B	100271927	broad.mit.edu	37	7	102137380	102137380	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:102137380G>T	ENST00000481893.1	-	14	1677	c.553C>A	c.(553-555)Cgg>Agg	p.R185R	RASA4B_ENST00000541662.1_Silent_p.R257R|RASA4B_ENST00000465829.1_Silent_p.R257R|RASA4B_ENST00000306682.6_Silent_p.R185R					RAS p21 protein activator 4B											skin(1)	1						TCCCGCAGCCGCACCTCCAGC	0.672000													8	20					1.12685e-05	1.38035e-05	1	1	0
THAP9	79725	broad.mit.edu	37	4	83825978	83825978	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr4:83825978C>A	ENST00000302236.5	+	2	221	c.170C>A	c.(169-171)cCa>cAa	p.P57Q		NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	57							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				ATTCCAGGACCAGGTGCTATA	0.413000													5	24					0.014758	0.0154892	1	1	0
ANO5	203859	broad.mit.edu	37	11	22249049	22249049	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:22249049G>T	ENST00000324559.8	+	7	882	c.565G>T	c.(565-567)Gca>Tca	p.A189S		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	189						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATATTTTACTGCACAATTCAG	0.463000													5	28					0.00116845	0.00128212	1	1	0
PCDH11X	27328	broad.mit.edu	37	X	91873711	91873711	+	Silent	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chrX:91873711C>G	ENST00000373094.1	+	7	4661	c.3816C>G	c.(3814-3816)gcC>gcG	p.A1272A	PCDH11X_ENST00000504220.1_3'UTR|PCDH11X_ENST00000361655.2_Silent_p.A1254A|PCDH11X_ENST00000406881.1_Silent_p.A1264A|PCDH11X_ENST00000298274.8_Silent_p.A1235A|PCDH11X_ENST00000373088.1_Silent_p.A1235A|PCDH11X_ENST00000373097.1_Silent_p.A1262A	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1272					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GTAGTCAGGCCCAATCATCAG	0.537000													48	105					0	0	1	0	0
IL16	3603	broad.mit.edu	37	15	81565482	81565482	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr15:81565482G>A	ENST00000394660.2	+	6	1087	c.727G>A	c.(727-729)Ggg>Agg	p.G243R	IL16_ENST00000302987.4_Missense_Mutation_p.G243R	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	243	Interaction with GRIN2A.|PDZ 1.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TGGCCCCATTGGGATTTACGT	0.512000													6	27					0	0	1	0	0
GABRG3	2567	broad.mit.edu	37	15	27571981	27571981	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr15:27571981C>G	ENST00000333743.6	+	4	550	c.296C>G	c.(295-297)gCt>gGt	p.A99G	GABRG3_ENST00000555083.1_Missense_Mutation_p.A99G	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	99					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		ATATTTTTTGCTCAGACCTGG	0.393000													8	34					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429	by1000genomes	TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657000													5	36					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139391703	139391703	+	Missense_Mutation	SNP	C	C	A	rs35900692		TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:139391703C>A	ENST00000277541.6	-	34	6563	c.6488G>T	c.(6487-6489)aGc>aTc	p.S2163I		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2163					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.S2163_T2283del(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CAGGCCTTTGCTGCTGGGCTT	0.687000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			20	65					8.28177e-16	1.44432e-15	1	1	0
DYRK4	8798	broad.mit.edu	37	12	4708283	4708283	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:4708283G>C	ENST00000540757.2	+	7	810	c.650G>C	c.(649-651)tGc>tCc	p.C217S	DYRK4_ENST00000010132.5_Missense_Mutation_p.C217S|DYRK4_ENST00000543431.1_Missense_Mutation_p.C217S	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	217	Protein kinase.					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			GTTTTGAAGTGCTTGCAGATG	0.443000													7	54					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136597379	136597379	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:136597379G>T	ENST00000531224.1	-	5	1536	c.1284C>A	c.(1282-1284)caC>caA	p.H428Q	BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000353331.4_Missense_Mutation_p.H426Q|BCLAF1_ENST00000527536.1_Missense_Mutation_p.H428Q|BCLAF1_ENST00000392348.2_Missense_Mutation_p.H426Q|BCLAF1_ENST00000527759.1_Missense_Mutation_p.H426Q	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	428					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CAGTATTCCGGTGAGATGCAG	0.403000													18	89					1.33834e-09	1.99544e-09	1	1	0
SLC13A2	9058	broad.mit.edu	37	17	26817755	26817755	+	Silent	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:26817755G>A	ENST00000444914.3	+	4	972	c.552G>A	c.(550-552)ctG>ctA	p.L184L	SLC13A2_ENST00000545060.1_Silent_p.L92L|SLC13A2_ENST00000314669.5_Silent_p.L135L|SLC13A2_ENST00000537681.1_Silent_p.L64L	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	135						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CGGCCTTCCTGTCCATGTGGA	0.602000													14	133					0	0	1	0	0
MUT	4594	broad.mit.edu	37	6	49427045	49427045	+	Silent	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:49427045G>A	ENST00000274813.3	-	2	262	c.135C>T	c.(133-135)gcC>gcT	p.A45A		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	45					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTTTAGCCAGGGCAGCCCATT	0.488000													17	49					0	0	1	0	0
HCLS1	3059	broad.mit.edu	37	3	121350947	121350947	+	Splice_Site	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:121350947C>G	ENST00000314583.3	-	13	1416		c.e13+1		HCLS1_ENST00000428394.2_Splice_Site|HCLS1_ENST00000473883.1_Splice_Site	NM_005335.4	NP_005326.2	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1						erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		TCCCAACCTACCTCCTTGGTA	0.547000													22	127					0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98165042	98165042	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:98165042C>T	ENST00000357947.3	-	10	1439	c.1214G>A	c.(1213-1215)tGg>tAg	p.W405*	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	405	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)		GTAATCATACCAGCACAGTCG	0.438000													10	43					0	0	1	0	0
HIPK2	28996	broad.mit.edu	37	7	139416618	139416618	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:139416618C>A	ENST00000406875.3	-	2	310	c.216G>T	c.(214-216)ccG>ccT	p.P72P	HIPK2_ENST00000428878.2_Silent_p.P72P|HIPK2_ENST00000342645.6_Silent_p.P72P	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	72					apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GGTTTGGGACCGGCAAGGAGG	0.602000													6	44					0.00116845	0.00128212	1	1	0
ANKRD44	91526	broad.mit.edu	37	2	197964569	197964569	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:197964569G>T	ENST00000328737.2	-	10	1072	c.996C>A	c.(994-996)acC>acA	p.T332T	ANKRD44_ENST00000337207.5_Silent_p.T332T|ANKRD44_ENST00000409919.1_Silent_p.T357T|ANKRD44_ENST00000282272.8_Silent_p.T349T|ANKRD44_ENST00000409153.1_Silent_p.T357T|ANKRD44_ENST00000450567.1_Silent_p.T332T|ANKRD44_ENST00000539527.1_Silent_p.T285T			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	357							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TGGTTATTAAGGTGTTAATCA	0.448000													9	20					2.74318e-10	4.20185e-10	1	1	0
IMPG2	50939	broad.mit.edu	37	3	100962669	100962669	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:100962669G>T	ENST00000193391.7	-	13	2693	c.2506C>A	c.(2506-2508)Cag>Aag	p.Q836K		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	836					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GAAATATCCTGTACACCCATA	0.458000													27	25					9.86323e-18	1.77907e-17	1	1	0
RAB11FIP3	9727	broad.mit.edu	37	16	538969	538969	+	Missense_Mutation	SNP	G	G	T	rs140423430		TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr16:538969G>T	ENST00000262305.4	+	5	1622	c.1234G>T	c.(1234-1236)Ggc>Tgc	p.G412C	RAB11FIP3_ENST00000450428.1_Missense_Mutation_p.G116C|RAB11FIP3_ENST00000457159.1_Missense_Mutation_p.G412C	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	412					cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				CGGGCAGCTGGGCTGCAGTGA	0.602000													7	48					0.0293803	0.0304134	1	1	0
MUC16	94025	broad.mit.edu	37	19	9003572	9003572	+	Silent	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:9003572C>T	ENST00000397910.4	-	49	40271	c.40068G>A	c.(40066-40068)caG>caA	p.Q13356Q	MUC16_ENST00000380951.5_5'UTR	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13358	SEA 9.				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						TCACCAGACCCTGAAGGACCC	0.542000													86	134					0	0	1	0	0
VWCE	220001	broad.mit.edu	37	11	61053816	61053816	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:61053816G>T	ENST00000335613.5	-	5	897	c.511C>A	c.(511-513)Cag>Aag	p.Q171K		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	171	EGF-like 2; calcium-binding (Potential).					extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GCAGACAGCTGCATGCCCGGC	0.577000													43	197					1.8453e-21	3.50304e-21	1	1	0
KMT2B	9757	broad.mit.edu	37	19	36228974	36228974	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:36228974A>T	ENST00000222270.7	+	36	7754	c.7754A>T	c.(7753-7755)cAc>cTc	p.H2585L	KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Missense_Mutation_p.H2585L	NM_014727.1	NP_055542.1																					TCAGCCATCCACGGGCGAGGC	0.607000													26	22					0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74041244	74041244	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:74041244G>A	ENST00000409561.1	+	2	859	c.738G>A	c.(736-738)atG>atA	p.M246I		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	246										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						AACCAGAAATGGTGATGGTGC	0.478000													9	38					0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22804558	22804558	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr18:22804558G>T	ENST00000361524.3	-	4	3472	c.3324C>A	c.(3322-3324)aaC>aaA	p.N1108K	ZNF521_ENST00000538137.2_Missense_Mutation_p.N1108K|ZNF521_ENST00000584787.1_Missense_Mutation_p.N888K	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1108					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)					CGGGAGGGACGTTAATGCCTG	0.547000			T	PAX5	ALL								14	60					1.05317e-09	1.57703e-09	1	1	0
PCLO	27445	broad.mit.edu	37	7	82764883	82764883	+	Silent	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:82764883C>T	ENST00000423517.2	-	3	2320	c.1983G>A	c.(1981-1983)ctG>ctA	p.L661L	PCLO_ENST00000333891.8_Silent_p.L661L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	607	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						GTGCAGTCTTCAGTTTGGGCT	0.488000													8	26					0	0	1	0	0
CCDC27	148870	broad.mit.edu	37	1	3677916	3677916	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:3677916G>T	ENST00000294600.2	+	5	867	c.783G>T	c.(781-783)gaG>gaT	p.E261D		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	261										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		TCCAGGAGGAGAGGGAGGCCC	0.592000													21	63					4.96729e-08	6.91361e-08	1	1	0
ZNF300	91975	broad.mit.edu	37	5	150275333	150275333	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:150275333C>T	ENST00000446148.2	-	7	1943	c.1516G>A	c.(1516-1518)Gaa>Aaa	p.E506K	ZNF300_ENST00000394226.2_Missense_Mutation_p.E490K|ZNF300_ENST00000274599.5_Missense_Mutation_p.E490K|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000418587.2_Missense_Mutation_p.E454K	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	490					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAGGGTTTTTCTCCAGTATGT	0.398000													3	17					0	0	1	0	0
SHB	6461	broad.mit.edu	37	9	38016130	38016130	+	Splice_Site	SNP	T	T	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:38016130T>G	ENST00000377707.3	-	2	1283		c.e2-2		SHB_ENST00000377700.4_Splice_Site|RP11-613M10.9_ENST00000540557.1_Splice_Site	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B						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)		TATGGTCACCTGCAGGGAGGA	0.512000													20	56					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119188239	119188239	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:119188239C>G	ENST00000313400.4	-	23	4011	c.3911G>C	c.(3910-3912)cGg>cCg	p.R1304P	ASTN2_ENST00000373996.3_Missense_Mutation_p.R1300P|ASTN2_ENST00000288520.5_Missense_Mutation_p.R405P|ASTN2_ENST00000361477.3_Missense_Mutation_p.R356P|ASTN2_ENST00000361209.2_Missense_Mutation_p.R1253P|ASTN2_ENST00000341734.4_Missense_Mutation_p.R356P			O75129	ASTN2_HUMAN	astrotactin 2	1304						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GCCTGCAGGCCGGACCTCCTC	0.582000													10	51					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71828642	71828642	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:71828642A>T	ENST00000258104.3	+	35	4134	c.3857A>T	c.(3856-3858)cAt>cTt	p.H1286L	DYSF_ENST00000409582.3_Missense_Mutation_p.H1303L|DYSF_ENST00000410020.3_Missense_Mutation_p.H1304L|DYSF_ENST00000409744.1_Missense_Mutation_p.H1273L|DYSF_ENST00000410041.1_Missense_Mutation_p.H1304L|DYSF_ENST00000409366.1_Missense_Mutation_p.H1287L|DYSF_ENST00000409651.1_Missense_Mutation_p.H1318L|DYSF_ENST00000394120.2_Missense_Mutation_p.H1287L|DYSF_ENST00000409762.1_Missense_Mutation_p.H1303L|DYSF_ENST00000429174.2_Missense_Mutation_p.H1286L|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000413539.2_Missense_Mutation_p.H1317L	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1286						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GCCATCCACCATATTCCTGGT	0.507000													24	21					0	0	1	0	0
FAM134C	162427	broad.mit.edu	37	17	40733881	40733881	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:40733881C>A	ENST00000309428.5	-	9	1410	c.1351G>T	c.(1351-1353)Gac>Tac	p.D451Y	FAM134C_ENST00000543197.1_Missense_Mutation_p.D256Y|FAM134C_ENST00000585894.1_Missense_Mutation_p.D354Y	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN	family with sequence similarity 134, member C	451						integral to membrane				endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		TCCGACTGGTCCAGAAGTTCA	0.567000													31	53					5.45727e-16	9.58471e-16	1	1	0
LTBP1	4052	broad.mit.edu	37	2	33588554	33588554	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:33588554G>T	ENST00000404816.2	+	29	4721	c.4368G>T	c.(4366-4368)acG>acT	p.T1456T	LTBP1_ENST00000404525.1_Silent_p.T1077T|LTBP1_ENST00000402934.1_Silent_p.T1075T|LTBP1_ENST00000390003.4_Silent_p.T1131T|LTBP1_ENST00000354476.3_Silent_p.T1457T|LTBP1_ENST00000418533.2_Silent_p.T1088T|LTBP1_ENST00000407925.1_Silent_p.T1130T|LTBP1_ENST00000272273.5_Silent_p.T354T			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1456	EGF-like 15; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AGCAAGGGACGTACTATGATC	0.393000													4	26					0.00909568	0.00962192	1	1	0
CACNA2D3	55799	broad.mit.edu	37	3	54919539	54919539	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:54919539A>G	ENST00000474759.1	+	23	2030	c.1982A>G	c.(1981-1983)cAc>cGc	p.H661R	CACNA2D3_ENST00000415676.2_Missense_Mutation_p.H661R|CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.H661R|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.H567R	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	661						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		ACTGACCTACACCCTGAGCAC	0.458000													5	11					0	0	1	0	0
TCL6	27004	broad.mit.edu	37	14	96129986	96129986	+	RNA	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr14:96129986C>A	ENST00000467865.1	+	0	394				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)		AGGCCAGTTTCATGTCTTGTG	0.443000			T	TRA@	T-ALL								17	23					1.99824e-07	2.70955e-07	1	1	0
MED13L	23389	broad.mit.edu	37	12	116422114	116422114	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:116422114C>A	ENST00000281928.3	-	20	4608	c.4402G>T	c.(4402-4404)Gga>Tga	p.G1468*		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1468					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		ACAGTTTTTCCCACGCGCATG	0.483000													14	38					0.0167234	0.0175308	1	1	0
IGKV3-20	28912	broad.mit.edu	37	2	89442159	89442159	+	RNA	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:89442159C>G	ENST00000492167.1	-	0	297																											TGCCACTGAACCTGTCTGGGA	0.547000													18	65					0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117424405	117424405	+	Silent	SNP	A	A	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:117424405A>G	ENST00000160373.3	-	5	2263	c.2172T>C	c.(2170-2172)acT>acC	p.T724T		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	724										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TTGATAATAAAGTGACATTTC	0.502000													38	81					0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56369781	56369781	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:56369781C>A	ENST00000301295.6	+	3	1444	c.1022C>A	c.(1021-1023)cCg>cAg	p.P341Q	NLRP4_ENST00000346986.5_Missense_Mutation_p.P341Q|NLRP4_ENST00000587891.1_Missense_Mutation_p.P266Q	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	341	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGCCAAATCCCGCTCCTCTGC	0.473000													29	37					1.17739e-12	1.92393e-12	1	1	0
LAMA2	3908	broad.mit.edu	37	6	129786364	129786364	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:129786364C>A	ENST00000421865.2	+	51	7279	c.7230C>A	c.(7228-7230)tcC>tcA	p.S2410S		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2410	Laminin G-like 2.				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)		GAATGGCTTCCGTTGTCAGCA	0.383000													16	13					8.60227e-14	1.44929e-13	1	1	0
KIAA1549L	25758	broad.mit.edu	37	11	33682506	33682506	+	Silent	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:33682506G>A	ENST00000321505.4	+	19	5394	c.5214G>A	c.(5212-5214)caG>caA	p.Q1738Q	KIAA1549L_ENST00000389726.3_Silent_p.Q1744Q					KIAA1549-like																		ATAGGAACCAGGCCTGGATGT	0.547000													6	13					0	0	1	0	0
TRBV7-8	28590	broad.mit.edu	37	7	142099570	142099570	+	RNA	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:142099570C>T	ENST00000390359.3	-	0	270																											CTGGGCAGCCCCGATTTGTCT	0.532000													16	58					0	0	1	0	0
TRAV25	28658	broad.mit.edu	37	14	22580354	22580354	+	RNA	SNP	T	T	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr14:22580354T>G	ENST00000390454.2	+	0	55																											TTAGGAGAAGTTGGATGAAGA	0.438000													15	13					0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20335219	20335219	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr16:20335219C>A	ENST00000302555.5	-	3	603	c.454G>T	c.(454-456)Gtg>Ttg	p.V152L	GP2_ENST00000341642.5_Intron|GP2_ENST00000381362.4_Missense_Mutation_p.V152L|GP2_ENST00000381360.5_Intron			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	152						anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TTCACCAGCACCTCTGTTTTC	0.587000													23	39					1.28384e-07	1.7463e-07	1	1	0
AGGF1	55109	broad.mit.edu	37	5	76355543	76355543	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:76355543G>C	ENST00000312916.7	+	12	2201	c.1819G>C	c.(1819-1821)Gat>Cat	p.D607H		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	607					angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		TTTCCAAAGAGATGATGCTCC	0.388000													13	18					0	0	1	0	0
GRB14	2888	broad.mit.edu	37	2	165353923	165353923	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:165353923T>A	ENST00000263915.3	-	10	1720	c.1182A>T	c.(1180-1182)gaA>gaT	p.E394D	GRB14_ENST00000543549.1_Missense_Mutation_p.E307D	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	394					blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						CTGAAAGGGCTTCAGTGGGAT	0.393000													13	25					0	0	1	0	0
HRC	3270	broad.mit.edu	37	19	49658233	49658233	+	Missense_Mutation	SNP	G	G	T	rs148966785	byFrequency	TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:49658233G>T	ENST00000252825.4	-	1	448	c.262C>A	c.(262-264)Cgt>Agt	p.R88S	HRC_ENST00000595625.1_Missense_Mutation_p.R88S	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	88					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TCCTTTTCACGGTCTGGGTGG	0.537000													47	67					6.21074e-16	1.0886e-15	1	1	0
OR52R1	119695	broad.mit.edu	37	11	4825782	4825782	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:4825782G>T	ENST00000380382.1	-	1	65	c.66C>A	c.(64-66)aaC>aaA	p.N22K	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TAAATAATATGTTACAACATG	0.294000													3	12					0.004672	0.00499401	1	1	0
GDAP1L1	78997	broad.mit.edu	37	20	42891925	42891925	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr20:42891925C>A	ENST00000342560.5	+	4	691	c.603C>A	c.(601-603)ccC>ccA	p.P201P	GDAP1L1_ENST00000537864.1_Silent_p.P9P	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	201	GST C-terminal.									endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			AAGAGGAGCCCCAGCTCTCCG	0.527000													50	179					4.01344e-20	7.46396e-20	1	1	0
GUCY2F	2986	broad.mit.edu	37	X	108619373	108619373	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chrX:108619373G>T	ENST00000218006.2	-	18	3465	c.3174C>A	c.(3172-3174)ttC>ttA	p.F1058L		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	1058					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CAATCAGCCAGAAGGTTTCCT	0.408000													18	59					1.02788e-11	1.63352e-11	1	1	0
XIRP2	129446	broad.mit.edu	37	2	168105500	168105500	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:168105500C>A	ENST00000409195.1	+	9	7687	c.7598C>A	c.(7597-7599)cCa>cAa	p.P2533Q	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P2311Q|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.P2533Q|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2358					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAACAAAATCCAAAACCTTAT	0.348000													13	19					9.31168e-06	1.1512e-05	1	1	0
GABRQ	55879	broad.mit.edu	37	X	151821066	151821066	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chrX:151821066C>A	ENST00000370306.2	+	9	1241	c.1221C>A	c.(1219-1221)ccC>ccA	p.P407P		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	407						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					CGCAGGCCCCCCTGGCAAGCC	0.587000													68	18					7.05995e-25	1.36865e-24	1	1	0
SSTR4	6754	broad.mit.edu	37	20	23016609	23016609	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr20:23016609C>A	ENST00000255008.3	+	1	553	c.489C>A	c.(487-489)gcC>gcA	p.A163A	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	163					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CCAGCGTGGCCAAGCTCATCA	0.682000													21	92					3.5997e-14	6.09423e-14	1	1	0
CACNG5	27091	broad.mit.edu	37	17	64880922	64880922	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:64880922G>T	ENST00000169565.3	+	4	714	c.714G>T	c.(712-714)caG>caT	p.Q238H	CACNG5_ENST00000533854.1_Intron|CACNG5_ENST00000307139.3_Intron			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	0				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CCTCATCCCAGAATGTGTCAC	0.612000													23	129					3.62473e-10	5.49883e-10	1	1	0
POLA1	5422	broad.mit.edu	37	X	24759582	24759582	+	Silent	SNP	A	A	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chrX:24759582A>G	ENST00000379068.3	+	21	2350	c.2307A>G	c.(2305-2307)ccA>ccG	p.P769P	POLA1_ENST00000379059.3_Silent_p.P763P			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	763					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	ATGTTCTTCCATTAGCATTGC	0.398000													12	5					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101890145	101890145	+	Silent	SNP	T	T	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr13:101890145T>C	ENST00000251127.6	-	12	1476	c.1395A>G	c.(1393-1395)gtA>gtG	p.V465V	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Silent_p.V465V	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	465						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)					GATCTGGGTATACATGAAGAG	0.323000													8	23					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141762961	141762961	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:141762961G>T	ENST00000389484.3	-	15	3417	c.2446C>A	c.(2446-2448)Cgg>Agg	p.R816R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	816	EGF-like 3.				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)		GCACACACCCGGCCTCCTGGG	0.438000										TSP Lung(27;0.18)			7	23					8.12818e-05	9.53963e-05	1	1	0
SPATA22	84690	broad.mit.edu	37	17	3343583	3343583	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:3343583C>T	ENST00000573128.1	-	9	1433	c.950G>A	c.(949-951)gGc>gAc	p.G317D	SPATA22_ENST00000541913.1_Missense_Mutation_p.G301D|SPATA22_ENST00000355380.4_Missense_Mutation_p.G274D|SPATA22_ENST00000572969.1_Missense_Mutation_p.G317D|SPATA22_ENST00000268981.5_3'UTR|SPATA22_ENST00000575375.1_Missense_Mutation_p.G317D|SPATA22_ENST00000397168.3_Missense_Mutation_p.G317D			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	317										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						GTCATAGTTGCCAACACATCT	0.358000													13	4					0	0	1	0	0
GPAM	57678	broad.mit.edu	37	10	113913356	113913356	+	Silent	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:113913356G>A	ENST00000348367.4	-	22	2636	c.2439C>T	c.(2437-2439)tgC>tgT	p.C813C	GPAM_ENST00000423155.1_Silent_p.C813C			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	813					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		TTTGTCGGTTGCATTGAGGTA	0.388000													10	85					0	0	1	0	0
INTS6	26512	broad.mit.edu	37	13	51969545	51969545	+	Silent	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr13:51969545G>C	ENST00000311234.4	-	5	976	c.504C>G	c.(502-504)ctC>ctG	p.L168L	INTS6_ENST00000497989.1_5'UTR|INTS6_ENST00000420668.2_Intron|INTS6_ENST00000398119.2_Silent_p.L155L|INTS6_ENST00000425000.1_5'UTR|INTS6_ENST00000463928.1_Silent_p.L168L	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	168	VWFA.				snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		CTAATGCAAAGAGTCTCTGAT	0.443000													3	22					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	31799680	31799680	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:31799680C>G	ENST00000438447.1	+	2	713	c.325C>G	c.(325-327)Cac>Gac	p.H109D	PDZD2_ENST00000282493.3_Missense_Mutation_p.H109D			O15018	PDZD2_HUMAN	PDZ domain containing 2	109	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						GAGGAAAACCCACCAGGGTCC	0.587000													35	179					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237550626	237550626	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:237550626C>A	ENST00000366574.2	+	9	939	c.622C>A	c.(622-624)Cag>Aag	p.Q208K	RYR2_ENST00000360064.6_Missense_Mutation_p.Q206K|RYR2_ENST00000542537.1_Missense_Mutation_p.Q192K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	208	MIR 2.				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)			TGCCGCTTTCCAGCAGACTCT	0.517000													13	58					0.0931896	0.0958947	1	1	0
NLGN4X	57502	broad.mit.edu	37	X	6069376	6069376	+	Silent	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chrX:6069376C>T	ENST00000381095.3	-	2	759	c.132G>A	c.(130-132)caG>caA	p.Q44Q	NLGN4X_ENST00000469740.1_5'UTR|NLGN4X_ENST00000381092.1_Silent_p.Q44Q|NLGN4X_ENST00000381093.2_Silent_p.Q44Q|NLGN4X_ENST00000538097.1_Silent_p.Q44Q|NLGN4X_ENST00000275857.6_Silent_p.Q44Q	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	44					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CAACTGGATACTGTGCTTGGC	0.493000													19	43					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152284258	152284258	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:152284258G>T	ENST00000368799.1	-	3	3139	c.3104C>A	c.(3103-3105)tCc>tAc	p.S1035Y	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1035	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGTGGCGGGATCCGTGTCT	0.567000									Ichthyosis				300	1233					1.30389e-70	2.71241e-70	1	1	0
RPL30	6156	broad.mit.edu	37	8	99057586	99057586	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:99057586C>G	ENST00000521291.1	-	1	156	c.10G>C	c.(10-12)Gca>Cca	p.A4P	RPL30_ENST00000518164.1_5'UTR|RPL30_ENST00000396070.2_Missense_Mutation_p.A4P|RPL30_ENST00000287038.3_Missense_Mutation_p.A4P|RPL30_ENST00000523172.1_5'UTR			P62888	RL30_HUMAN	ribosomal protein L30	4					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			kidney(2)|lung(4)|skin(1)	7	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.192)			GTCTTCTTTGCGGCCACCATC	0.597000													17	142					0	0	1	0	0
C2orf57	165100	broad.mit.edu	37	2	232457817	232457817	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:232457817C>A	ENST00000313965.2	+	1	243	c.155C>A	c.(154-156)gCc>gAc	p.A52D		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	52										endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		ATAGATCAGGCCTCCTTCAAG	0.552000													26	115					2.79863e-10	4.27925e-10	1	1	0
BPI	671	broad.mit.edu	37	20	36932694	36932694	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr20:36932694C>A	ENST00000262865.4	+	1	170	c.81C>A	c.(79-81)gcC>gcA	p.A27A	CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	27					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)				TAGGCACCGCCGTGACAGCGG	0.642000													21	98					2.4624e-09	3.64016e-09	1	1	0
CD22	933	broad.mit.edu	37	19	35823740	35823740	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:35823740G>T	ENST00000085219.5	+	3	391	c.325G>T	c.(325-327)Gtg>Ttg	p.V109L	CD22_ENST00000419549.2_5'UTR|CD22_ENST00000595419.1_3'UTR|CD22_ENST00000594250.1_Missense_Mutation_p.V109L|CD22_ENST00000270311.6_5'UTR|CD22_ENST00000536635.2_Missense_Mutation_p.V109L|CD22_ENST00000341773.6_Missense_Mutation_p.V109L|CD22_ENST00000544992.2_Missense_Mutation_p.V109L	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	109	Ig-like V-type.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	TATCCACCCGGTGCACCTCAA	0.498000													27	34					1.66031e-10	2.56351e-10	1	1	0
NCL	4691	broad.mit.edu	37	2	232325455	232325455	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:232325455C>A	ENST00000322723.4	-	4	976	c.736G>T	c.(736-738)Gat>Tat	p.D246Y		NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	246	Asp/Glu-rich (acidic).				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		tcgtcgtcatcctcgtcctca	0.448000													14	25					0.000219431	0.000252586	1	1	0
CALCR	799	broad.mit.edu	37	7	93055841	93055841	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:93055841C>A	ENST00000359558.2	-	16	1653	c.1354G>T	c.(1354-1356)Ggg>Tgg	p.G452W	CALCR_ENST00000394441.1_Missense_Mutation_p.G418W|CALCR_ENST00000426151.1_Missense_Mutation_p.G418W|CALCR_ENST00000421592.1_Missense_Mutation_p.G434W|CALCR_ENST00000360249.4_Missense_Mutation_p.G434W	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	434					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	GGGCGCCTCCCCCAACGCTGG	0.552000													21	96					1.40151e-16	2.49173e-16	1	1	0
ADAMTSL3	57188	broad.mit.edu	37	15	84651142	84651142	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr15:84651142G>T	ENST00000286744.5	+	21	2986	c.2762G>T	c.(2761-2763)aGa>aTa	p.R921I	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R921I	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	921	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			ATTGGTAGCAGAGCCTATTTG	0.507000													18	45					1.02788e-11	1.63352e-11	1	1	0
MED1	5469	broad.mit.edu	37	17	37563815	37563815	+	Silent	SNP	A	A	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:37563815A>G	ENST00000300651.6	-	17	4882	c.4659T>C	c.(4657-4659)tcT>tcC	p.S1553S	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1553					androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GTCTGTCTGCAGATAAGATTG	0.443000										HNSCC(31;0.082)			16	31					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183600900	183600900	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr4:183600900C>T	ENST00000511685.1	+	8	1531	c.1408C>T	c.(1408-1410)Cgg>Tgg	p.R470W	TENM3_ENST00000406950.2_Missense_Mutation_p.R470W					teneurin transmembrane protein 3																		GAGAGCCGGGCGGCAGGCGAG	0.557000													11	36					0	0	1	0	0
LINGO2	158038	broad.mit.edu	37	9	27949810	27949810	+	Missense_Mutation	SNP	G	G	T	rs148563623	by1000genomes	TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:27949810G>T	ENST00000379992.2	-	6	1309	c.860C>A	c.(859-861)aCt>aAt	p.T287N	LINGO2_ENST00000308675.3_Missense_Mutation_p.T287N	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	287						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TGCTTCAATAGTGCTGATGGG	0.507000													14	42					4.3838e-07	5.84395e-07	1	1	0
AIM1	202	broad.mit.edu	37	6	106967628	106967628	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:106967628C>T	ENST00000369066.3	+	2	1808	c.1321C>T	c.(1321-1323)Cca>Tca	p.P441S		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	441							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)		AGATTTACCTCCAACGGCCAT	0.517000													37	23					0	0	1	0	0
CCDC132	55610	broad.mit.edu	37	7	92886736	92886736	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:92886736G>T	ENST00000544910.1	+	7	512	c.292G>T	c.(292-294)Ggt>Tgt	p.G98C	CCDC132_ENST00000305866.5_Missense_Mutation_p.G128C|CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000541136.1_5'UTR|CCDC132_ENST00000317751.6_5'UTR|CCDC132_ENST00000251739.5_Missense_Mutation_p.G128C	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	128										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			ATTGCAGACAGGTCTTCAATT	0.323000													3	16					0.00024832	0.000283026	1	1	0
OR2F2	135948	broad.mit.edu	37	7	143632887	143632887	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:143632887G>T	ENST00000408955.2	+	1	629	c.562G>T	c.(562-564)Gct>Tct	p.A188S		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					GGTCAGGCTGGCTTGTGTGGA	0.488000													15	97					1.49906e-05	1.82471e-05	1	1	0
IL23R	149233	broad.mit.edu	37	1	67702456	67702456	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:67702456C>A	ENST00000347310.5	+	8	1187	c.1016C>A	c.(1015-1017)gCt>gAt	p.A339D	IL23R_ENST00000395227.1_Missense_Mutation_p.A84D|IL23R_ENST00000473881.1_Intron|IL23R_ENST00000371002.1_Missense_Mutation_p.A339D	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	339					inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 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|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						CTAACAGTTGCTTCCATCTCT	0.383000													10	9					4.68919e-08	6.56865e-08	1	1	0
INPP4B	8821	broad.mit.edu	37	4	143130116	143130116	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr4:143130116G>T	ENST00000513000.1	-	14	1333	c.900C>A	c.(898-900)gtC>gtA	p.V300V	INPP4B_ENST00000508116.1_Silent_p.V300V|INPP4B_ENST00000262992.4_Silent_p.V300V|INPP4B_ENST00000308502.4_Silent_p.V300V|INPP4B_ENST00000509777.1_Silent_p.V300V	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	300					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					AGTGAGTAAGGACATTTTTTC	0.378000													3	13					1	1	1	1	0
ZNF324	25799	broad.mit.edu	37	19	58983207	58983207	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:58983207G>T	ENST00000536459.2	+	4	2057	c.1348G>T	c.(1348-1350)Gag>Tag	p.E450*	ZNF324_ENST00000535298.1_Nonsense_Mutation_p.E227*|ZNF324_ENST00000196482.3_Nonsense_Mutation_p.E450*			O75467	Z324A_HUMAN	zinc finger protein 324	450					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GCACACGGGCGAGCGGCCCTT	0.692000													35	81					3.11337e-16	5.49029e-16	1	1	0
TTN	7273	broad.mit.edu	37	2	179468881	179468881	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:179468881C>G	ENST00000589042.1	-	282	54757	c.54533G>C	c.(54532-54534)cGc>cCc	p.R18178P	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R15610P|TTN_ENST00000591111.1_Missense_Mutation_p.R16537P|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R9305P|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R9238P|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R9113P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16537	Ig-like 105.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R15610H(2)|p.R9238H(1)|p.R9113H(1)|p.R9305H(1)		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)			TCCTTTGGTGCGTGCCAAAAC	0.448000													16	68					0	0	1	0	0
C9	735	broad.mit.edu	37	5	39311441	39311441	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:39311441C>A	ENST00000263408.4	-	7	1004	c.909G>T	c.(907-909)ctG>ctT	p.L303L		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	303	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			CAAATCTTCCCAGATGAATTT	0.348000													21	19					4.96729e-08	6.91361e-08	1	1	0
KLK2	3817	broad.mit.edu	37	19	51381675	51381675	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:51381675C>T	ENST00000325321.3	+	5	871	c.646C>T	c.(646-648)Cca>Tca	p.P216S	KLK2_ENST00000358049.4_3'UTR|KLK2_ENST00000391810.2_Missense_Mutation_p.P114S			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	216	Peptidase S1.				proteolysis		serine-type endopeptidase activity		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		TTCTGGGGGTCCACTTGTCTG	0.532000			T	ETV4	prostate								23	106					0	0	1	0	0
IFNA5	3442	broad.mit.edu	37	9	21305228	21305228	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:21305228C>A	ENST00000259555.4	-	1	84	c.28G>T	c.(28-30)Gcc>Tcc	p.A10S		NM_002169.2	NP_002160.1	P01569	IFNA5_HUMAN	interferon, alpha 5	10					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		ACCACCAGGGCCATCAGTAAA	0.517000													5	44					0.014758	0.0154892	1	1	0
SDK2	54549	broad.mit.edu	37	17	71335030	71335030	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:71335030G>T	ENST00000392650.3	-	45	6215	c.6215C>A	c.(6214-6216)tCc>tAc	p.S2072Y	SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Missense_Mutation_p.S2053Y	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	2072					cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GTTGACAAAGGAGTGGGCCTT	0.587000													7	76					3.09899e-07	4.1471e-07	1	1	0
DUSP26	78986	broad.mit.edu	37	8	33454928	33454928	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:33454928G>T	ENST00000256261.4	-	2	623	c.106C>A	c.(106-108)Cca>Aca	p.P36T	DUSP26_ENST00000523956.1_Missense_Mutation_p.P36T	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)	36						Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		TGAACGGTTGGCATCTCCTCC	0.562000													6	26					0.00116845	0.00128212	1	1	0
GGN	199720	broad.mit.edu	37	19	38876589	38876589	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:38876589G>A	ENST00000334928.6	-	3	1445	c.1313C>T	c.(1312-1314)cCa>cTa	p.P438L	AC005789.9_ENST00000585411.1_RNA|GGN_ENST00000591809.1_Intron	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	438	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			tggcagcggtggTAACTCCTG	0.736000													5	9					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43906234	43906234	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:43906234C>T	ENST00000562955.1	+	51	7150	c.7150C>T	c.(7150-7152)Cgg>Tgg	p.R2384W	SZT2_ENST00000372442.1_Missense_Mutation_p.R1542W	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2441						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CAAAGCGGGCCGGCGTAGCTT	0.597000													33	92					0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546631	11546631	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:11546631G>T	ENST00000389362.4	-	3	416	c.381C>A	c.(379-381)aaC>aaA	p.N127K	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTTGAGGCTGGTTGCCTCCTT	0.602000													333	425					2.05043e-102	4.28591e-102	1	1	0
METTL2A	339175	broad.mit.edu	37	17	60518052	60518052	+	Silent	SNP	A	A	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:60518052A>G	ENST00000311506.5	+	6	780	c.744A>G	c.(742-744)ccA>ccG	p.P248P		NM_181725.3	NP_859076.3	Q96IZ6	MTL2A_HUMAN	methyltransferase like 2A	248							methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			AGAGTTACCCAGTGCCCAAGG	0.428000													30	58					0	0	1	0	0
SFPQ	6421	broad.mit.edu	37	1	35650074	35650074	+	Missense_Mutation	SNP	T	T	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:35650074T>G	ENST00000357214.5	-	10	2205	c.2107A>C	c.(2107-2109)Aaa>Caa	p.K703Q		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	703					alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|nucleotide binding|protein binding|RNA binding		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CGGGGTTTTTTGTTTGGGCCT	0.438000			T	TFE3	papillary renal cell								8	48					0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81545702	81545702	+	Splice_Site	SNP	A	A	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:81545702A>G	ENST00000548058.1	+	6	1911	c.1002_splice	c.e6+1	p.E334_splice	ACSS3_ENST00000548324.1_Splice_Site_p.E16_splice|ACSS3_ENST00000261206.3_Splice_Site_p.E333_splice			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	334						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						CAACCCGGAGAGGTAATCGTG	0.388000													10	27					0	0	1	0	0
LOC102546299	102546299	broad.mit.edu	37	5	164028095	164028095	+	RNA	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:164028095G>T	ENST00000486913.3	+	0	273				CTC-340A15.2_ENST00000517508.1_RNA|CTC-340A15.2_ENST00000523704.1_RNA|CTC-340A15.2_ENST00000522646.1_RNA|CTC-340A15.2_ENST00000519570.1_RNA|CTC-340A15.2_ENST00000522303.1_RNA																							TGGAGAACTCGCCCAGGTCGT	0.602000													3	8					0.004672	0.00499401	1	1	0
DPYS	1807	broad.mit.edu	37	8	105441930	105441930	+	Splice_Site	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:105441930C>A	ENST00000351513.2	-	5	926		c.e5-1			NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase						protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ACCACCTTCCCTGGAAAGATT	0.423000													7	89					8.12818e-05	9.53963e-05	1	1	0
PPP1R12B	4660	broad.mit.edu	37	1	202462410	202462410	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:202462410G>C	ENST00000406302.3	+	15	2263	c.2110G>C	c.(2110-2112)Ggc>Cgc	p.G704R	PPP1R12B_ENST00000367270.4_5'UTR|PPP1R12B_ENST00000391959.3_5'UTR|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.G704R|PPP1R12B_ENST00000290419.5_3'UTR	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	704					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			AGCTGGGGAGGGCCAGCAGCC	0.557000													22	62					0	0	1	0	0
GRIN3B	116444	broad.mit.edu	37	19	1008896	1008896	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:1008896C>A	ENST00000234389.3	+	8	2691	c.2672C>A	c.(2671-2673)tCg>tAg	p.S891*		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	891					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	CCAGAGGGGTCGAAGGAGGAG	0.706000													9	9					6.40141e-05	7.56927e-05	1	1	0
ABCA10	10349	broad.mit.edu	37	17	67178890	67178890	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:67178890C>T	ENST00000269081.4	-	22	3466	c.2557G>A	c.(2557-2559)Gat>Aat	p.D853N	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	853					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CTAAAGTCATCTATTTCCAAA	0.378000													19	54					0	0	1	0	0
MTERFD1	51001	broad.mit.edu	37	8	97256184	97256184	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:97256184A>T	ENST00000523821.1	-	7	1141	c.1022T>A	c.(1021-1023)aTg>aAg	p.M341K	MTERFD1_ENST00000287025.3_Missense_Mutation_p.M341K|MTERFD1_ENST00000522822.1_Missense_Mutation_p.M220K|MTERFD1_ENST00000524341.1_Intron			Q96E29	MTER1_HUMAN	MTERF domain containing 1	341					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					GGGAATGCTCATCACATTGTG	0.428000													21	79					0	0	1	0	0
GLRA2	2742	broad.mit.edu	37	X	14627263	14627263	+	Missense_Mutation	SNP	T	T	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chrX:14627263T>G	ENST00000218075.4	+	7	1396	c.866T>G	c.(865-867)cTg>cGg	p.L289R	GLRA2_ENST00000443437.2_Missense_Mutation_p.L200R|GLRA2_ENST00000355020.4_Missense_Mutation_p.L289R	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	289					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	AGGGTCGCACTGGGCATCACC	0.458000													48	25					0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77290584	77290584	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr4:77290584G>A	ENST00000388914.3	-	10	1494	c.1342C>T	c.(1342-1344)Cgg>Tgg	p.R448W		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	448										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						CTGACCTGCCGCTCCATCTGG	0.512000													15	32					0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26789919	26789919	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:26789919G>A	ENST00000376236.4	+	5	787	c.332G>A	c.(331-333)gGt>gAt	p.G111D	APBB1IP_ENST00000356785.4_Missense_Mutation_p.G111D	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	111					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						GCCTCTCTTGGTTATGGAACA	0.488000													23	67					0	0	1	0	0
MIR381HG	378881	broad.mit.edu	37	14	101515003	101515003	+	RNA	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr14:101515003C>G	ENST00000553692.1	+	0	28				MIR544A_ENST00000384855.1_RNA																							agattttcatcacctagggat	0.413000													5	22					0	0	1	0	0
ZC3H11A	9877	broad.mit.edu	37	1	203816656	203816656	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:203816656A>G	ENST00000545588.1	+	12	5214	c.1387A>G	c.(1387-1389)Aca>Gca	p.T463A	ZC3H11A_ENST00000367212.3_Missense_Mutation_p.T463A|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.T463A|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.T463A|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.T463A	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	463							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TGCAGGTAAAACAAAGTCTAT	0.468000													31	62					0	0	1	0	0
PDE4D	5144	broad.mit.edu	37	5	59284440	59284440	+	Silent	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:59284440G>A	ENST00000502484.2	-	3	370	c.147C>T	c.(145-147)ccC>ccT	p.P49P	PDE4D_ENST00000546160.1_Silent_p.P49P	NM_001165899.1	NP_001159371.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	0	Pro-rich.				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	AGGCGAGAGGGGGAAGCTGAA	0.488000													7	43					0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54558177	54558177	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:54558177C>T	ENST00000566473.2	+	16	2098	c.2098C>T	c.(2098-2100)Cag>Tag	p.Q700*	ANKFN1_ENST00000318698.2_Nonsense_Mutation_p.Q700*			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	700										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						ACCTCTACACCAGGTACTAGA	0.423000													25	62					0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13602988	13602988	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr4:13602988C>A	ENST00000040738.5	-	10	5671	c.5536G>T	c.(5536-5538)Gct>Tct	p.A1846S		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1846							DNA binding										CAAGGACCAGCAGCAACTAAT	0.473000													27	70					7.07758e-08	9.78802e-08	1	1	0
MTF1	4520	broad.mit.edu	37	1	38305674	38305674	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:38305674T>A	ENST00000373036.4	-	3	705	c.565A>T	c.(565-567)Atc>Ttc	p.I189F		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	189						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CGCACGTGGATCCTGAGGCTG	0.532000													16	71					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152280360	152280360	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:152280360G>T	ENST00000368799.1	-	3	7037	c.7002C>A	c.(7000-7002)caC>caA	p.H2334Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2334	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGACTGCTGGTGGTGGGATC	0.552000									Ichthyosis				142	1124					9.35349e-44	1.91818e-43	1	1	0
PLXNA2	5362	broad.mit.edu	37	1	208315745	208315745	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:208315745C>A	ENST00000367033.3	-	4	2192	c.1435G>T	c.(1435-1437)Gga>Tga	p.G479*		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	479	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		ATGGGGCTTCCGTCCTTGAGC	0.562000													68	102					1.42676e-28	2.83881e-28	1	1	0
WDFY1	57590	broad.mit.edu	37	2	224776980	224776980	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:224776980C>A	ENST00000233055.4	-	3	371	c.269G>T	c.(268-270)gGa>gTa	p.G90V		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	90						cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		CATTACAGCTCCATTATCCTG	0.398000													6	16					3.59834e-05	4.2987e-05	1	1	0
SEPHS1	22929	broad.mit.edu	37	10	13386940	13386940	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:13386940C>A	ENST00000327347.5	-	2	386	c.11G>T	c.(10-12)cGg>cTg	p.R4L	SEPHS1_ENST00000537130.1_Intron|SEPHS1_ENST00000545675.1_Missense_Mutation_p.R4L|SEPHS1_ENST00000378614.4_Missense_Mutation_p.R4L|SEPHS1_ENST00000494329.1_5'UTR	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN	selenophosphate synthetase 1	4					protein modification process		ATP binding|GTP binding|selenide, water dikinase activity			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						AAAGGACTCCCGCGTAGACAT	0.567000													22	67					7.41877e-09	1.07746e-08	1	1	0
ST8SIA3	51046	broad.mit.edu	37	18	55027468	55027468	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr18:55027468G>T	ENST00000324000.3	+	4	3137	c.1103G>T	c.(1102-1104)gGg>gTg	p.G368V		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	368					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		CGAATGCATGGGGAAGGGCTC	0.473000													7	12					1.06961e-07	1.46871e-07	1	1	0
FAM172A	83989	broad.mit.edu	37	5	93159936	93159936	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:93159936C>A	ENST00000395965.3	-	8	966	c.824G>T	c.(823-825)tGg>tTg	p.W275L	FAM172A_ENST00000509163.1_Missense_Mutation_p.W229L|FAM172A_ENST00000505869.1_Missense_Mutation_p.W165L|FAM172A_ENST00000509739.1_Missense_Mutation_p.W128L	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN	family with sequence similarity 172, member A	275						endoplasmic reticulum|extracellular region				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						GAAATGATCCCAAACATAGAT	0.353000													7	24					0.0293803	0.0304134	1	1	0
MYH7B	57644	broad.mit.edu	37	20	33575988	33575988	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr20:33575988T>A	ENST00000262873.7	+	17	1728	c.1636T>A	c.(1636-1638)Tac>Aac	p.Y546N		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	504	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)			GCAGGAGGAGTACAAGCGGGA	0.537000													33	35					0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46925788	46925788	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr21:46925788C>A	ENST00000359759.4	+	36	4390	c.4369C>A	c.(4369-4371)Cag>Aag	p.Q1457K	COL18A1_ENST00000400337.2_Missense_Mutation_p.Q1042K|COL18A1_ENST00000355480.5_Missense_Mutation_p.Q1222K|SLC19A1_ENST00000567670.1_Intron			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1457	Nonhelical region 11 (NC11).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CATGCTGGGCCAGGTGCACGA	0.687000													19	41					9.7654e-05	0.000114534	1	1	0
AP1G2	8906	broad.mit.edu	37	14	24030508	24030508	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr14:24030508G>C	ENST00000308724.5	-	18	2745	c.1990C>G	c.(1990-1992)Cca>Gca	p.P664A	AP1G2_ENST00000397120.3_Missense_Mutation_p.P664A|RP11-66N24.3_ENST00000555968.1_RNA	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	664					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		GGCTTACCTGGGGGTGGAGGT	0.582000													17	66					0	0	1	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84530729	84530729	+	RNA	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:84530729A>T	ENST00000527857.1	+	0	751					NR_026851.1																						CTACCCCAACAGCTTCCCTCT	0.527000													21	118					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26743761	26743761	+	Translation_Start_Site	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr22:26743761G>A	ENST00000411842.2	+	0	81				SEZ6L_ENST00000360929.3_Silent_p.L763L|SEZ6L_ENST00000404234.3_Silent_p.L763L|SEZ6L_ENST00000248933.6_Silent_p.L763L|SEZ6L_ENST00000343706.4_Silent_p.L763L|SEZ6L_ENST00000403121.1_Silent_p.L536L|SEZ6L_ENST00000529632.2_Silent_p.L763L|SEZ6L_ENST00000402979.1_Silent_p.L536L			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like							endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						ACACGGAGTTGGTGCGGGGAG	0.547000													16	53					0	0	1	0	0
SLC25A10	1468	broad.mit.edu	37	17	79671276	79671276	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:79671276G>T	ENST00000571730.1	+	2	208	c.77G>T	c.(76-78)cGa>cTa	p.R26L	SLC25A10_ENST00000541223.1_Missense_Mutation_p.R26L|MRPL12_ENST00000333676.3_Missense_Mutation_p.R26L			Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	0					gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	GGGGCTAGGCGACAGGTGCCA	0.617000													26	46					8.24728e-16	1.44265e-15	1	1	0
NDNF	79625	broad.mit.edu	37	4	121958564	121958564	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr4:121958564C>A	ENST00000379692.4	-	4	1088	c.562G>T	c.(562-564)Ggg>Tgg	p.G188W	NDNF_ENST00000506900.1_5'UTR	NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	188								p.G188W(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						GTGGTGCGCCCCAGTGAGGTC	0.483000													53	72					4.44712e-29	8.85855e-29	1	1	0
OR52K1	390036	broad.mit.edu	37	11	4510379	4510379	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:4510379G>C	ENST00000307632.3	+	1	271	c.249G>C	c.(247-249)atG>atC	p.M83I		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGCCCAAAATGCTTGCCATAT	0.488000													15	39					0	0	1	0	0
GALNT1	2589	broad.mit.edu	37	18	33272144	33272144	+	Splice_Site	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr18:33272144G>T	ENST00000269195.5	+	8	1262		c.e8-1		GALNT1_ENST00000537549.1_Splice_Site	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)						protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						TCTTTCAACAGGTGTTACAAA	0.323000													5	11					0.014758	0.0154892	1	1	0
SDK1	221935	broad.mit.edu	37	7	4091276	4091276	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:4091276G>T	ENST00000404826.2	+	19	2864	c.2725G>T	c.(2725-2727)Gca>Tca	p.A909S	SDK1_ENST00000389531.3_Missense_Mutation_p.A909S	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	909	Fibronectin type-III 3.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TCAGCTTCTGGCATGGCCGGC	0.473000													18	113					8.28177e-16	1.44432e-15	1	1	0
RHOBTB1	9886	broad.mit.edu	37	10	62652603	62652603	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:62652603C>A	ENST00000337910.5	-	5	784	c.447G>T	c.(445-447)ctG>ctT	p.L149L	RHOBTB1_ENST00000357917.4_Silent_p.L149L	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	149	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					TAACAGCTTCCAGGTCGGCAT	0.502000													29	88					4.87955e-14	8.23692e-14	1	1	0
NSUN2	54888	broad.mit.edu	37	5	6600289	6600289	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:6600289G>C	ENST00000264670.6	-	19	2365	c.2054C>G	c.(2053-2055)tCc>tGc	p.S685C	NSUN2_ENST00000506139.1_Missense_Mutation_p.S650C|NSUN2_ENST00000539938.1_Missense_Mutation_p.S449C	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	685						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						AGTTCGAATGGAGGCCTTTCC	0.478000													22	60					0	0	1	0	0
ZWINT	11130	broad.mit.edu	37	10	58120969	58120969	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:58120969G>T	ENST00000373944.3	-	1	67	c.29C>A	c.(28-30)gCt>gAt	p.A10D	ZWINT_ENST00000395405.1_Missense_Mutation_p.A10D|ZWINT_ENST00000361148.6_Missense_Mutation_p.A10D			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	10					cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						TAGGGCTGCAGCTTCCGCCTC	0.587000													5	23					1.23904e-05	1.51032e-05	1	1	0
SGIP1	84251	broad.mit.edu	37	1	67147757	67147757	+	Silent	SNP	A	A	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:67147757A>G	ENST00000371037.4	+	15	1097	c.1020A>G	c.(1018-1020)ccA>ccG	p.P340P	SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Silent_p.P344P	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	340	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CAGCTACACCAGACAACCCAG	0.597000													39	162					0	0	1	0	0
EIF3A	8661	broad.mit.edu	37	10	120830458	120830458	+	Silent	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:120830458G>A	ENST00000369144.3	-	5	808	c.681C>T	c.(679-681)tcC>tcT	p.S227S	EIF3A_ENST00000541549.1_Silent_p.S193S|EIF3A_ENST00000478852.1_Intron	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	227					formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		CCAAATGCATGGACTGGCTCT	0.423000													4	15					0	0	1	0	0
ZNRF4	148066	broad.mit.edu	37	19	5456735	5456735	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:5456735C>A	ENST00000222033.4	+	1	1310	c.1233C>A	c.(1231-1233)tcC>tcA	p.S411S		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	411						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GCACCACGTCCCTGGAGGCAG	0.647000													14	36					6.31663e-08	8.74261e-08	1	1	0
TMEM25	84866	broad.mit.edu	37	11	118405023	118405023	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:118405023G>T	ENST00000524725.1	+	6	1260	c.848G>T	c.(847-849)cGg>cTg	p.R283L	TMEM25_ENST00000354064.7_Missense_Mutation_p.R179L|TMEM25_ENST00000544878.1_Missense_Mutation_p.R230L|TMEM25_ENST00000533102.1_Missense_Mutation_p.R326L|TMEM25_ENST00000442938.2_Missense_Mutation_p.R282L|TMEM25_ENST00000411589.2_Missense_Mutation_p.R283L|TMEM25_ENST00000354284.4_Missense_Mutation_p.R327L|TMEM25_ENST00000359862.4_Missense_Mutation_p.R283L|TMEM25_ENST00000313236.5_Missense_Mutation_p.R327L			Q86YD3	TMM25_HUMAN	transmembrane protein 25	327						extracellular region|integral to membrane|plasma membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		AACAACAGCCGGCCAGAGCTT	0.652000													9	33					4.68919e-08	6.56865e-08	1	1	0
CECR1	51816	broad.mit.edu	37	22	17688163	17688163	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr22:17688163G>C	ENST00000399839.1	-	3	610	c.340C>G	c.(340-342)Cat>Gat	p.H114D	CECR1_ENST00000449907.2_Missense_Mutation_p.H72D|CECR1_ENST00000399837.2_Missense_Mutation_p.H114D|CECR1_ENST00000262607.3_Missense_Mutation_p.H114D			Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	114					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				CCAATGTCATGGAGGTGCAAG	0.567000													12	89					0	0	1	0	0
THRB	7068	broad.mit.edu	37	3	24231781	24231781	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:24231781G>T	ENST00000396671.2	-	5	415	c.67C>A	c.(67-69)Cga>Aga	p.R23R	THRB_ENST00000356447.4_Silent_p.R23R|THRB_ENST00000416420.1_Silent_p.R23R	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	23	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	TCGTGTTCTCGGTCTGGACAG	0.493000													23	38					1.22574e-08	1.77426e-08	1	1	0
VPS37C	55048	broad.mit.edu	37	11	60901538	60901538	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:60901538C>A	ENST00000301765.5	-	3	467	c.235G>T	c.(235-237)Gag>Tag	p.E79*		NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37 homolog C (S. cerevisiae)	79	VPS37 C-terminal.				cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						TGGCACCGCTCCACGAGCTTC	0.627000													38	74					7.04047e-22	1.33946e-21	1	1	0
FCRL5	83416	broad.mit.edu	37	1	157516897	157516897	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:157516897C>A	ENST00000361835.3	-	3	300	c.143G>T	c.(142-144)cGc>cTc	p.R48L	FCRL5_ENST00000368190.3_Missense_Mutation_p.R48L|FCRL5_ENST00000368189.3_Missense_Mutation_p.R48L|FCRL5_ENST00000368188.2_Missense_Mutation_p.R48L|FCRL5_ENST00000356953.4_Missense_Mutation_p.R48L|FCRL5_ENST00000368191.3_Intron	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	48	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TGAGTAGAAGCGAAATCCCTT	0.478000													32	122					1.88708e-17	3.38622e-17	1	1	0
UBR4	23352	broad.mit.edu	37	1	19479826	19479826	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:19479826C>A	ENST00000375267.2	-	46	6804	c.6801G>T	c.(6799-6801)aaG>aaT	p.K2267N	UBR4_ENST00000375254.3_Missense_Mutation_p.K2267N|UBR4_ENST00000375217.2_Missense_Mutation_p.K2267N|UBR4_ENST00000375226.2_Missense_Mutation_p.K2267N			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2267					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)		TTCGAACAGGCTTCATGATGC	0.522000													40	60					6.97489e-18	1.26202e-17	1	1	0
ACKR4	51554	broad.mit.edu	37	3	132319806	132319806	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:132319806C>A	ENST00000249887.2	+	2	661	c.565C>A	c.(565-567)Ccc>Acc	p.P189T	ACAD11_ENST00000545291.1_Intron|ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000264990.6_Intron	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1			atypical chemokine receptor 4																		TCCCATTTTCCCCCGCTACCT	0.423000													10	12					0.0167234	0.0175308	1	1	0
MAN2B1	4125	broad.mit.edu	37	19	12759990	12759990	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:12759990T>C	ENST00000456935.2	-	20	2436	c.2396A>G	c.(2395-2397)cAg>cGg	p.Q799R	MAN2B1_ENST00000221363.4_Missense_Mutation_p.Q798R	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	799					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GCTGCCCCCCTGGGAGCGGTC	0.617000													9	31					0	0	1	0	0
ZNF366	167465	broad.mit.edu	37	5	71756588	71756588	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:71756588C>A	ENST00000318442.5	-	2	1226	c.736G>T	c.(736-738)Gtg>Ttg	p.V246L		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GAGCCGCCCACGTCCACGTAG	0.622000													48	201					1.76056e-25	3.44767e-25	1	1	0
PNPLA6	10908	broad.mit.edu	37	19	7623913	7623913	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:7623913G>T	ENST00000221249.6	+	31	3892	c.3461G>T	c.(3460-3462)cGc>cTc	p.R1154L	PNPLA6_ENST00000600737.1_Missense_Mutation_p.R1192L|PNPLA6_ENST00000414982.3_Missense_Mutation_p.R1202L|PNPLA6_ENST00000450331.3_Missense_Mutation_p.R1154L|PNPLA6_ENST00000545201.2_Missense_Mutation_p.R1127L	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1193					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						ATCCAGTCCCGCCTGGCCTAC	0.607000													16	66					0.00316338	0.00340024	1	1	0
C6orf203	51250	broad.mit.edu	37	6	107372260	107372260	+	Splice_Site	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:107372260G>T	ENST00000443043.1	+	5	1233		c.e5-1		C6orf203_ENST00000405204.2_Splice_Site|C6orf203_ENST00000311381.5_Splice_Site	NM_001142470.1	NP_001135942.1	Q9P0P8	CF203_HUMAN	chromosome 6 open reading frame 203											large_intestine(4)|lung(2)|prostate(1)|urinary_tract(1)	8	Breast(9;0.00124)|all_epithelial(6;0.0729)	all_cancers(87;0.00461)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|Colorectal(196;0.171)|all_epithelial(87;0.23)	BRCA - Breast invasive adenocarcinoma(8;0.000395)|all cancers(7;0.00065)|Epithelial(6;0.000834)|OV - Ovarian serous cystadenocarcinoma(5;0.244)	BRCA - Breast invasive adenocarcinoma(108;0.117)		TTAATTTTCAGGTGAAAGTGG	0.408000													16	10					5.01169e-05	5.95439e-05	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141245215	141245215	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:141245215T>C	ENST00000389484.3	-	58	10185	c.9214A>G	c.(9214-9216)Aga>Gga	p.R3072G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3072					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)		AAACACATTCTATTTATGCGA	0.308000										TSP Lung(27;0.18)			3	12					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131916021	131916021	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:131916021C>G	ENST00000286355.5	-	7	4000	c.1908G>C	c.(1906-1908)caG>caC	p.Q636H	ADCY8_ENST00000377928.3_Missense_Mutation_p.Q636H	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	636					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			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)			GACTTACATTCTGTTTCCCCA	0.493000										HNSCC(32;0.087)			47	35					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5424867	5424867	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:5424867G>A	ENST00000345221.3	-	13	4314	c.3760C>T	c.(3760-3762)Cca>Tca	p.P1254S	NLRP1_ENST00000354411.3_Missense_Mutation_p.P1224S|NLRP1_ENST00000572272.1_Missense_Mutation_p.P1254S|NLRP1_ENST00000577119.1_Missense_Mutation_p.P1224S|NLRP1_ENST00000262467.5_Missense_Mutation_p.P1258S|NLRP1_ENST00000269280.4_Missense_Mutation_p.P1254S	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1254					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CAGTCACTTGGGATCAGGTAG	0.542000													11	49					0	0	1	0	0
CXCR1	3577	broad.mit.edu	37	2	219029259	219029259	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:219029259G>T	ENST00000295683.2	-	2	796	c.676C>A	c.(676-678)Ctg>Atg	p.L226M		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	226					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						AGTGTACGCAGGGTGAATCCA	0.532000													23	123					7.41877e-09	1.07746e-08	1	1	0
SPTA1	6708	broad.mit.edu	37	1	158651361	158651361	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:158651361A>T	ENST00000368148.3	-	4	667	c.487T>A	c.(487-489)Tat>Aat	p.Y163N	SPTA1_ENST00000368147.3_Missense_Mutation_p.Y163N	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	163					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCCTGTACATACTGCTGGAAC	0.537000													53	109					0	0	1	0	0
ZMYM1	79830	broad.mit.edu	37	1	35580819	35580819	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:35580819G>A	ENST00000373330.1	+	11	3562	c.3388G>A	c.(3388-3390)Gaa>Aaa	p.E1130K	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.E1130K			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	1130						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AAGACTCAATGAAATTGTGGA	0.363000													3	10					0	0	1	0	0
OR51V1	283111	broad.mit.edu	37	11	5221002	5221002	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:5221002G>T	ENST00000321255.1	-	1	928	c.929C>A	c.(928-930)aCc>aAc	p.T310N		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGCATTCTGGTATGAATCTG	0.373000													4	10					0.00024832	0.000283026	1	1	0
NFATC2IP	84901	broad.mit.edu	37	16	28970311	28970311	+	Splice_Site	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr16:28970311G>T	ENST00000320805.4	+	7	1066		c.e7-1		NFATC2IP_ENST00000568148.1_Splice_Site|NFATC2IP_ENST00000564978.1_Splice_Site|RP11-264B17.2_ENST00000569974.1_RNA|NFATC2IP_ENST00000562977.1_Splice_Site	NM_032815.3	NP_116204.3	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein							cytoplasm|nucleus				breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2)	11						GCCTCCCACAGACTGTGTGGT	0.582000													10	60					0.000442599	0.00049728	1	1	0
HIST1H3B	8358	broad.mit.edu	37	6	26032250	26032250	+	Silent	SNP	G	G	T	rs145803209		TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:26032250G>T	ENST00000244661.2	-	1	38	c.39C>A	c.(37-39)ggC>ggA	p.G13G		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	13					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						GCGCTTTACCGCCGGTGGATT	0.592000													36	191					4.65686e-17	8.32199e-17	1	1	0
SLC6A15	55117	broad.mit.edu	37	12	85279220	85279220	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:85279220G>T	ENST00000450363.3	-	4	1026	c.568C>A	c.(568-570)Cac>Aac	p.H190N	SLC6A15_ENST00000551388.1_Intron|SLC6A15_ENST00000266682.5_Missense_Mutation_p.H190N|SLC6A15_ENST00000552192.1_Missense_Mutation_p.H83N	NM_018057.6	NP_060527.2	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	190					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TTACAAGTGTGTGAAGCATTT	0.343000													4	19					0.00024832	0.000283026	1	1	0
OBSCN	84033	broad.mit.edu	37	1	228505740	228505740	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:228505740G>T	ENST00000570156.2	+	64	16942	c.16868G>T	c.(16867-16869)gGt>gTt	p.G5623V	OBSCN_ENST00000366707.4_Missense_Mutation_p.G2300V|OBSCN_ENST00000284548.11_Missense_Mutation_p.G4666V|OBSCN_ENST00000422127.1_Missense_Mutation_p.G4666V|OBSCN_ENST00000366709.4_Missense_Mutation_p.G1785V	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4666	SH3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ATCCAGCCCGGTGGGCGGTTC	0.627000													41	43					6.45866e-13	1.06037e-12	1	1	0
LAMA2	3908	broad.mit.edu	37	6	129498911	129498911	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:129498911G>T	ENST00000421865.2	+	10	1416	c.1367G>T	c.(1366-1368)tGt>tTt	p.C456F		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	456	Laminin EGF-like 3.				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)		TGTGATCGGTGTGCCAGGGGC	0.483000													5	31					0.000602214	0.000671403	1	1	0
ATP2B3	492	broad.mit.edu	37	X	152827615	152827615	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chrX:152827615G>T	ENST00000370186.1	+	18	3358	c.3032G>T	c.(3031-3033)gGg>gTg	p.G1011V	ATP2B3_ENST00000349466.2_Missense_Mutation_p.G1025V|ATP2B3_ENST00000263519.4_Missense_Mutation_p.G1025V|ATP2B3_ENST00000359149.3_Missense_Mutation_p.G1025V|ATP2B3_ENST00000370181.2_Missense_Mutation_p.G1011V|ATP2B3_ENST00000393842.1_Missense_Mutation_p.G1011V			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	1025					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGTTTGGCGGGAAGCCCTTC	0.607000													91	69					3.33908e-46	6.86388e-46	1	1	0
PARP2	10038	broad.mit.edu	37	14	20811812	20811812	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr14:20811812G>T	ENST00000527915.1	+	1	17	c.12G>T	c.(10-12)cgG>cgT	p.R4R	PARP2_ENST00000250416.5_Silent_p.R4R|PARP2_ENST00000429687.3_Silent_p.R4R|RPPH1_ENST00000554988.1_RNA			Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	4					protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		TGGCGGCGCGGCGGCGACGGA	0.687000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					5	8					0.014758	0.0154892	1	1	0
GRHPR	9380	broad.mit.edu	37	9	37430611	37430611	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:37430611G>A	ENST00000607784.1	+	7	707	c.702G>A	c.(700-702)atG>atA	p.M234I	GRHPR_ENST00000318158.6_Missense_Mutation_p.M234I			Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	234					cellular nitrogen compound metabolic process|excretion|glyoxylate metabolic process	peroxisomal matrix	glycerate dehydrogenase activity|glyoxylate reductase (NADP) activity|hydroxypyruvate reductase activity|NAD binding|protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		TCCAGAAGATGAAGGAAACAG	0.542000													13	44					0	0	1	0	0
YEATS2	55689	broad.mit.edu	37	3	183490251	183490251	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:183490251G>T	ENST00000305135.5	+	16	2301	c.2106G>T	c.(2104-2106)gtG>gtT	p.V702V		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	702					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)			AAGCAATTGTGAGTGGAGGTG	0.547000													51	79					9.82405e-12	1.56842e-11	1	1	0
USP48	84196	broad.mit.edu	37	1	22083113	22083113	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:22083113A>G	ENST00000308271.9	-	3	986	c.338T>C	c.(337-339)cTt>cCt	p.L113P	USP48_ENST00000400301.1_Missense_Mutation_p.L113P|USP48_ENST00000421625.2_Missense_Mutation_p.L113P|USP48_ENST00000529637.1_Missense_Mutation_p.L113P	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	113					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TGCCTGCCGAAGCTCCAAGTT	0.463000													5	68					0	0	1	0	0
CCDC13	152206	broad.mit.edu	37	3	42781227	42781227	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:42781227G>A	ENST00000310232.6	-	9	1146	c.1063C>T	c.(1063-1065)Cgg>Tgg	p.R355W	CCDC13-AS1_ENST00000446950.1_RNA|CCDC13-AS1_ENST00000418161.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	355										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						AGCTTGTTCCGAGACCTCATG	0.517000													11	58					0	0	1	0	0
ANXA5	308	broad.mit.edu	37	4	122599105	122599105	+	Splice_Site	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr4:122599105C>A	ENST00000296511.5	-	8	760	c.474_splice	c.e8-1	p.A159_splice	ANXA5_ENST00000501272.2_Splice_Site_p.A99_splice|ANXA5_ENST00000515017.1_Splice_Site_p.A59_splice	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN	annexin A5	159					anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity			NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						TCTCTGTTAGCCTATGAGAGG	0.378000													8	25					0.0381472	0.039418	1	1	0
LRRC8D	55144	broad.mit.edu	37	1	90400998	90400998	+	Missense_Mutation	SNP	C	C	T	rs145230984		TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:90400998C>T	ENST00000337338.5	+	3	2778	c.2371C>T	c.(2371-2373)Cca>Tca	p.P791S	LRRC8D_ENST00000394593.3_Missense_Mutation_p.P791S	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	791						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)		CACCTCACTCCCAGAGAAAGT	0.512000													41	53					0	0	1	0	0
BCAN	63827	broad.mit.edu	37	1	156621399	156621399	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:156621399C>G	ENST00000329117.4	+	7	1551	c.1215C>G	c.(1213-1215)atC>atG	p.I405M	BCAN_ENST00000361588.5_Missense_Mutation_p.I405M|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	405	Glu-rich.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTGGGGCCATCTACTCCATCC	0.582000													51	112					0	0	1	0	0
OR10W1	81341	broad.mit.edu	37	11	58034629	58034629	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:58034629G>T	ENST00000395079.2	-	1	1103	c.702C>A	c.(700-702)tcC>tcA	p.S234S		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				CAGTGAGGTGGGAAGAGCAGG	0.582000													14	85					9.31168e-06	1.1512e-05	1	1	0
SLC23A1	9963	broad.mit.edu	37	5	138716259	138716259	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:138716259G>A	ENST00000353963.3	-	5	498	c.460C>T	c.(460-462)Cgg>Tgg	p.R154W	SLC23A1_ENST00000348729.3_Missense_Mutation_p.R154W	NM_152685.3	NP_689898.2	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	154					brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	CCCACCTCCCGTATCCGTGGG	0.567000													11	64					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10304097	10304097	+	Splice_Site	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:10304097C>A	ENST00000403437.2	-	27	3440		c.e27-1		CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal						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						CAATGCGGGCCTGGGAATGAA	0.507000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				31	56					1.39806e-14	2.38783e-14	1	1	0
NAF1	92345	broad.mit.edu	37	4	164087652	164087652	+	Silent	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr4:164087652G>A	ENST00000274054.2	-	1	421	c.228C>T	c.(226-228)gcC>gcT	p.A76A	NAF1_ENST00000422287.2_Silent_p.A76A	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	76					rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				CCGGGGTCCCGGCCGCGACGG	0.731000													6	9					0	0	1	0	0
PIWIL2	55124	broad.mit.edu	37	8	22145056	22145056	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:22145056C>G	ENST00000356766.6	+	7	907	c.759C>G	c.(757-759)tgC>tgG	p.C253W	PIWIL2_ENST00000521356.1_Missense_Mutation_p.C253W|PIWIL2_ENST00000454009.2_Missense_Mutation_p.C253W	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	253					DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		ATGTGGAGTGCAAAAGCATGA	0.453000											OREG0018608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	22					0	0	1	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685551	125685551	+	Silent	SNP	T	T	A	rs113971773		TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chrX:125685551T>A	ENST00000371126.1	-	1	1283	c.1041A>T	c.(1039-1041)cgA>cgT	p.R347R		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	347										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						TGCCACCCTCTCGAGAACACA	0.612000													29	47					0	0	1	0	0
AKAP8L	26993	broad.mit.edu	37	19	15511761	15511761	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:15511761T>A	ENST00000397410.4	-	6	974	c.910A>T	c.(910-912)Aat>Tat	p.N304Y	AKAP8L_ENST00000595465.1_Missense_Mutation_p.N243Y	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	304						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						GGCTCACCATTGTCTGAGTCG	0.592000													10	39					0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81545704	81545704	+	Splice_Site	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:81545704G>T	ENST00000548058.1	+	6	1912		c.e6+1		ACSS3_ENST00000548324.1_Splice_Site|ACSS3_ENST00000261206.3_Splice_Site			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3							mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						ACCCGGAGAGGTAATCGTGGT	0.393000													10	28					2.17888e-05	2.63559e-05	1	1	0
SPATA31D1	389763	broad.mit.edu	37	9	84606716	84606716	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:84606716C>A	ENST00000344803.2	+	4	1378	c.1331C>A	c.(1330-1332)cCa>cAa	p.P444Q		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		CAACTTAGGCCAAACTACCAA	0.408000													11	13					0.00829132	0.00883559	1	1	0
NASP	4678	broad.mit.edu	37	1	46078916	46078916	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:46078916A>T	ENST00000350030.3	+	7	1589	c.1502A>T	c.(1501-1503)aAc>aTc	p.N501I	NASP_ENST00000402363.3_Missense_Mutation_p.N503I|NASP_ENST00000372052.4_Missense_Mutation_p.N135I|NASP_ENST00000537798.1_Missense_Mutation_p.N437I|NASP_ENST00000530073.1_3'UTR|NASP_ENST00000351223.3_Missense_Mutation_p.N162I	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	501	Glu-rich (acidic).|Histone-binding.				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					GTCCTTGAAAACAAGGTATGT	0.413000													6	12					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11576119	11576119	+	Silent	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:11576119A>T	ENST00000294484.6	+	6	1788	c.1650A>T	c.(1648-1650)ccA>ccT	p.P550P	PTCHD2_ENST00000389575.3_Silent_p.P550P	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	550	SSD.				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TGGAAGACCCACAGCTGCGCA	0.597000													18	28					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2150186	2150186	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr16:2150186C>G	ENST00000262304.4	-	28	9901	c.9693G>C	c.(9691-9693)gaG>gaC	p.E3231D	PKD1_ENST00000423118.1_Missense_Mutation_p.E3231D	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3231	PLAT.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCACCTCCTTCTCCACCAGGC	0.662000													8	57					0	0	1	0	0
BAIAP3	8938	broad.mit.edu	37	16	1389589	1389589	+	Silent	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr16:1389589C>T	ENST00000324385.5	+	5	656	c.498C>T	c.(496-498)ctC>ctT	p.L166L	BAIAP3_ENST00000397488.2_Silent_p.L148L|BAIAP3_ENST00000426824.3_Silent_p.L131L|BAIAP3_ENST00000421665.2_Silent_p.L131L|BAIAP3_ENST00000397489.1_Silent_p.L148L|BAIAP3_ENST00000562208.1_Silent_p.L108L|BAIAP3_ENST00000568887.1_Silent_p.L103L	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	166					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				AGGCCCTGCTCAGCTATCTCC	0.637000													7	11					0	0	1	0	0
IGKV1-16	28938	broad.mit.edu	37	2	89399369	89399369	+	RNA	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:89399369G>C	ENST00000479981.1	-	0	360																											CTATTATACTGTTGGCAGTAA	0.517000													18	85					0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108469081	108469081	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:108469081C>A	ENST00000263054.6	-	7	1050	c.1043G>T	c.(1042-1044)tGc>tTc	p.C348F	SORCS1_ENST00000344440.6_Missense_Mutation_p.C348F	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	348						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)		CTGCATTCGGCAAGTTAGATA	0.408000													7	15					2.7689e-08	3.94227e-08	1	1	0
ASMT	438	broad.mit.edu	37	X	1742074	1742074	+	Missense_Mutation	SNP	G	G	T	rs146923704	byFrequency	TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chrX:1742074G>T	ENST00000381241.3	+	2	311	c.112G>T	c.(112-114)Gcc>Tcc	p.A38S	ASMT_ENST00000381229.4_Missense_Mutation_p.A38S|ASMT_ENST00000381233.3_Missense_Mutation_p.A38S	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	38					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGACCTTCTCGCCGAGGCCCC	0.637000													12	28					5.50884e-06	6.85448e-06	1	1	0
OR8D4	338662	broad.mit.edu	37	11	123777848	123777848	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:123777848C>A	ENST00000321355.2	+	1	740	c.710C>A	c.(709-711)gCg>gAg	p.A237E		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		AGGTGCAAAGCGTTTAGCACC	0.458000													32	43					1.06801e-11	1.69574e-11	1	1	0
SPRED1	161742	broad.mit.edu	37	15	38643837	38643837	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr15:38643837G>T	ENST00000299084.4	+	7	2167	c.1307G>T	c.(1306-1308)tGt>tTt	p.C436F		NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	436	SPR.				inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TGTGGTTGCTGTGGTGGGAAA	0.453000									Legius syndrome				14	39					9.31168e-06	1.1512e-05	1	1	0
CHD9	80205	broad.mit.edu	37	16	53358029	53358029	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr16:53358029C>G	ENST00000566029.1	+	39	8077	c.7868C>G	c.(7867-7869)gCa>gGa	p.A2623G	CHD9_ENST00000398510.3_Missense_Mutation_p.A2639G|CHD9_ENST00000564845.1_Missense_Mutation_p.A2623G|CHD9_ENST00000447540.1_Missense_Mutation_p.A2624G			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2639					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AGTGGAATTGCAAAGGCCACA	0.507000													37	59					0	0	1	0	0
GOLGA6D	653643	broad.mit.edu	37	15	75586708	75586708	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr15:75586708G>T	ENST00000434739.3	+	18	2015	c.1974G>T	c.(1972-1974)ctG>ctT	p.L658L		NM_001145224.1	NP_001138696.1	P0CG33	GOG6D_HUMAN	golgin A6 family, member D	658										kidney(1)|lung(1)	2						AAGTGAGCCTGGACAACAACG	0.612000													21	45					5.35356e-11	8.38515e-11	1	1	0
TPPP2	122664	broad.mit.edu	37	14	21498852	21498852	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr14:21498852G>A	ENST00000321760.6	+	2	260	c.112G>A	c.(112-114)Ggc>Agc	p.G38S	TPPP2_ENST00000460647.2_Missense_Mutation_p.G38S|NDRG2_ENST00000403829.3_Intron|TPPP2_ENST00000530140.2_Missense_Mutation_p.G38S	NM_173846.4	NP_776245.2	P59282	TPPP2_HUMAN	tubulin polymerization-promoting protein family member 2	38						cytoplasm				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CAAAGACTGTGGCATCATGGA	0.483000													7	28					0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7982669	7982669	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:7982669G>T	ENST00000328600.2	-	2	651	c.490C>A	c.(490-492)Ctg>Atg	p.L164M		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	164							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GATGGGGCCAGTGAGGGCTTT	0.577000													24	33					9.95505e-16	1.72919e-15	1	1	0
ARMC5	79798	broad.mit.edu	37	16	31477831	31477831	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr16:31477831G>T	ENST00000408912.3	+	8	3031	c.2714G>T	c.(2713-2715)tGt>tTt	p.C905F	ARMC5_ENST00000563544.1_Missense_Mutation_p.C810F|ARMC5_ENST00000268314.4_Missense_Mutation_p.C810F|ARMC5_ENST00000538189.1_Missense_Mutation_p.C842F|ARMC5_ENST00000457010.2_3'UTR|ARMC5_ENST00000412665.2_Missense_Mutation_p.C454F			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	810							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TTGCATGGTTGTCGGGGGTGT	0.672000													22	26					3.62473e-10	5.49883e-10	1	1	0
AASS	10157	broad.mit.edu	37	7	121755273	121755273	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:121755273C>A	ENST00000393376.1	-	8	993	c.898G>T	c.(898-900)Gca>Tca	p.A300S	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Missense_Mutation_p.A300S			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	300	Lysine-ketoglutarate reductase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	GTATAGGGTGCAATCTGTAAT	0.388000													10	49					1.76689e-08	2.526e-08	1	1	0
ENPP5	59084	broad.mit.edu	37	6	46135825	46135825	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:46135825C>A	ENST00000371383.2	-	3	435	c.175G>T	c.(175-177)Gtt>Ttt	p.V59F	ENPP5_ENST00000230565.3_Missense_Mutation_p.V59F			Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)	59						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						TTCACGTGAACACCATATTTC	0.358000													4	14					0.014758	0.0154892	1	1	0
TRAF2	7186	broad.mit.edu	37	9	139802567	139802567	+	Missense_Mutation	SNP	G	G	T	rs138185376		TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:139802567G>T	ENST00000359662.3	+	5	613	c.568G>T	c.(568-570)Gcg>Tcg	p.A190S	TRAF2_ENST00000536468.1_Missense_Mutation_p.A138S|TRAF2_ENST00000247668.2_Missense_Mutation_p.A138S|TRAF2_ENST00000482854.1_3'UTR			Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	138					activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		CGAATGTCCCGCGTGCAAAGG	0.642000													28	85					6.12954e-19	1.12429e-18	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113585860	113585860	+	Silent	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:113585860A>T	ENST00000297405.5	-	24	4156	c.3912T>A	c.(3910-3912)acT>acA	p.T1304T	CSMD3_ENST00000343508.3_Silent_p.T1264T|CSMD3_ENST00000352409.3_Silent_p.T1304T|CSMD3_ENST00000455883.2_Silent_p.T1200T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1304	CUB 7.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTAGTAGATGAGTCGTTTTAT	0.328000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	37					0	0	1	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	105011474	105011474	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chrX:105011474C>A	ENST00000372582.1	+	11	2637	c.1881C>A	c.(1879-1881)gcC>gcA	p.A627A	IL1RAPL2_ENST00000538500.1_Silent_p.A232A|IL1RAPL2_ENST00000344799.4_Silent_p.A627A	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	627					central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGATACCAGCCACGACCTTGC	0.483000													27	24					5.61819e-17	1.00296e-16	1	1	0
MYH3	4621	broad.mit.edu	37	17	10538316	10538316	+	Silent	SNP	T	T	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:10538316T>C	ENST00000583535.1	-	31	4284	c.4197A>G	c.(4195-4197)caA>caG	p.Q1399Q	MYH3_ENST00000226209.7_Silent_p.Q1399Q	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1399					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CCTCGGAATCTTGAAGGCGCT	0.438000													19	59					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4091275	4091275	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:4091275G>T	ENST00000404826.2	+	19	2863	c.2724G>T	c.(2722-2724)ctG>ctT	p.L908L	SDK1_ENST00000389531.3_Silent_p.L908L	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	908	Fibronectin type-III 3.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CTCAGCTTCTGGCATGGCCGG	0.468000													17	113					1.45105e-14	2.47591e-14	1	1	0
IGSF9B	22997	broad.mit.edu	37	11	133790971	133790971	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:133790971C>A	ENST00000321016.8	-	18	2879	c.2649G>T	c.(2647-2649)acG>acT	p.T883T	IGSF9B_ENST00000533871.2_Silent_p.T883T			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	883						integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GGTACATGTCCGTCTCCTCGG	0.652000													17	91					4.7546e-09	6.96941e-09	1	1	0
NCAM1	4684	broad.mit.edu	37	11	113076779	113076779	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:113076779C>A	ENST00000316851.7	+	4	475	c.475C>A	c.(475-477)Ctg>Atg	p.L159M	NCAM1_ENST00000533760.1_Missense_Mutation_p.L51M|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.L168M	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	169	Ig-like C2-type 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		ATTCATAGTCCTGTCCAACAA	0.498000													23	29					3.62473e-10	5.49883e-10	1	1	0
GOLGA2	2801	broad.mit.edu	37	9	131036249	131036249	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:131036249C>A	ENST00000421699.2	-	2	99	c.87G>T	c.(85-87)ttG>ttT	p.L29F	GOLGA2_ENST00000490628.1_Missense_Mutation_p.L29F	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	29						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						GATATTCTCTCAACTGTGGAA	0.388000													58	81					2.17126e-26	4.28577e-26	1	1	0
CTD-2267D19.3	0	broad.mit.edu	37	17	38520082	38520082	+	Silent	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:38520082G>A	ENST00000578774.1	+	2	1231	c.894G>A	c.(892-894)gcG>gcA	p.A298A																								CTGGGGACGCGGGGCGGGGAG	0.697000													11	15					0	0	1	0	0
DTWD2	285605	broad.mit.edu	37	5	118264408	118264408	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:118264408T>C	ENST00000304058.4	-	4	293	c.223A>G	c.(223-225)Act>Gct	p.T75A	DTWD2_ENST00000510708.1_Missense_Mutation_p.T141A|DTWD2_ENST00000515439.3_Intron			Q8NBA8	DTWD2_HUMAN	DTW domain containing 2	141										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)	13		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)		CGGCAAACAGTTGAAAGTTCA	0.303000													5	26					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141004726	141004726	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:141004726G>C	ENST00000389484.3	-	87	14224	c.13253C>G	c.(13252-13254)tCc>tGc	p.S4418C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4418	EGF-like 14.				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)		CCAGTTGGTGGAGCATCTAAA	0.398000										TSP Lung(27;0.18)			4	8					0	0	1	0	0
RASAL2	9462	broad.mit.edu	37	1	178426019	178426019	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:178426019A>G	ENST00000448150.3	+	13	3160	c.2342A>G	c.(2341-2343)gAa>gGa	p.E781G	RASAL2_ENST00000462775.1_Missense_Mutation_p.E651G|RASAL2_ENST00000367649.3_Missense_Mutation_p.E792G	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	651					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						AAAATATTTGAAGACCCCACT	0.403000													20	65					0	0	1	0	0
RTF1	23168	broad.mit.edu	37	15	41762493	41762493	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr15:41762493G>T	ENST00000389629.4	+	7	940	c.928G>T	c.(928-930)Gag>Tag	p.E310*		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	310	Glu-rich.				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		AAAAACCAGTGAGGTCTACTC	0.408000													22	57					8.10497e-08	1.11644e-07	1	1	0
OR5W2	390148	broad.mit.edu	37	11	55681256	55681256	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:55681256A>T	ENST00000344514.1	-	1	802	c.803T>A	c.(802-804)cTa>cAa	p.L268Q		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ATCTTGATCTAGAGAATAGGA	0.438000													12	10					0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74823886	74823886	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr14:74823886C>A	ENST00000256362.4	+	2	641	c.400C>A	c.(400-402)Cgc>Agc	p.R134S		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	134					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						GCAGGCCGTGCGCTACTCCCT	0.627000													33	66					1.74807e-11	2.76287e-11	1	1	0
NRCAM	4897	broad.mit.edu	37	7	107824966	107824966	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:107824966T>C	ENST00000379028.3	-	21	2598	c.2128A>G	c.(2128-2130)Aag>Gag	p.K710E	NRCAM_ENST00000413765.2_Missense_Mutation_p.K691E|NRCAM_ENST00000379022.4_Missense_Mutation_p.K710E|NRCAM_ENST00000379024.4_Missense_Mutation_p.K691E|NRCAM_ENST00000351718.4_Missense_Mutation_p.K694E|NRCAM_ENST00000425651.2_Missense_Mutation_p.K710E			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	710	Fibronectin type-III 1.			K -> N (in Ref. 3; BAA20801).	angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						GGAGACAGCTTCAGCTGGGCT	0.517000													7	44					0	0	1	0	0
FCRL6	343413	broad.mit.edu	37	1	159779194	159779194	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:159779194C>A	ENST00000321935.6	+	6	714	c.628C>A	c.(628-630)Cct>Act	p.P210T	FCRL6_ENST00000368106.3_Missense_Mutation_p.P203T|FCRL6_ENST00000339348.5_Missense_Mutation_p.P203T|FCRL6_ENST00000392235.3_Missense_Mutation_p.P108T			Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	203	Ig-like C2-type 3.					integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					TGTCCCAGCTCCTGTATCCCG	0.662000													33	59					2.70662e-09	3.99779e-09	1	1	0
HCN1	348980	broad.mit.edu	37	5	45262259	45262259	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:45262259C>G	ENST00000303230.4	-	8	2494	c.2437G>C	c.(2437-2439)Gcc>Ccc	p.A813P		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	813						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GGGATGGAGGCCAGGGACTCG	0.672000													9	106					0	0	1	0	0
LILRA3	11026	broad.mit.edu	37	19	54802051	54802051	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:54802051C>A	ENST00000391745.1	-	10	1504	c.1188G>T	c.(1186-1188)caG>caT	p.Q396H	LILRA3_ENST00000251390.3_Missense_Mutation_p.Q379H|LILRA3_ENST00000391744.3_Missense_Mutation_p.Q315H					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGAATTCAGCCTGGTACTTAT	0.577000													98	37					1.59228e-47	3.2809e-47	1	1	0
SCARF2	91179	broad.mit.edu	37	22	20786093	20786093	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr22:20786093C>A	ENST00000405555.3	-	3	343	c.273G>T	c.(271-273)gtG>gtT	p.V91V	SCARF2_ENST00000266214.5_Silent_p.V91V	NM_182895.2	NP_878315.1	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	91	EGF-like 1.				cell adhesion	integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GCCTCACGCACACCTCGTTCT	0.701000													15	5					3.41278e-10	5.19545e-10	1	1	0
LCE3D	84648	broad.mit.edu	37	1	152552254	152552254	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:152552254G>T	ENST00000368787.3	-	2	215	c.159C>A	c.(157-159)ttC>ttA	p.F53L		NM_032563.1	NP_115952.1	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	53					keratinization					breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		GGTGGTTCAGGAAGCAGCCGC	0.677000													26	249					8.24728e-16	1.44265e-15	1	1	0
HSPG2	3339	broad.mit.edu	37	1	22211356	22211356	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:22211356C>A	ENST00000374695.3	-	12	1490	c.1411G>T	c.(1411-1413)Gag>Tag	p.E471*		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	471	Ig-like C2-type 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TGGTCTGACTCCTTCACATCA	0.602000													34	47					8.16721e-17	1.45502e-16	1	1	0
PTPRT	11122	broad.mit.edu	37	20	40757402	40757402	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr20:40757402A>G	ENST00000373198.3	-	20	3140	c.2905T>C	c.(2905-2907)Tac>Cac	p.Y969H	PTPRT_ENST00000373190.1_Missense_Mutation_p.Y946H|PTPRT_ENST00000373193.3_Missense_Mutation_p.Y950H|PTPRT_ENST00000373187.1_Missense_Mutation_p.Y947H|PTPRT_ENST00000356100.2_Missense_Mutation_p.Y956H|PTPRT_ENST00000373201.1_Missense_Mutation_p.Y937H|PTPRT_ENST00000373184.1_Missense_Mutation_p.Y937H	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	947	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACGTCAATGTAGTTGGCATTG	0.557000													16	63					0	0	1	0	0
NMS	129521	broad.mit.edu	37	2	101093706	101093706	+	Splice_Site	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:101093706G>C	ENST00000376865.1	+	4	191	c.183_splice	c.e4-1	p.D62_splice		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	62					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						CTCTTTCCAGGATAATCAAGA	0.408000													2	5					0	0	1	0	0
OR1E2	8388	broad.mit.edu	37	17	3337086	3337086	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:3337086A>T	ENST00000248384.1	-	1	49	c.50T>A	c.(49-51)cTg>cAg	p.L17Q		NM_003554.1	NP_003545.1	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E, member 2	17					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)	9						TTGGATGGGCAGGCCCAGGAG	0.493000													43	30					0	0	1	0	0
ZNF445	353274	broad.mit.edu	37	3	44488124	44488124	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:44488124C>A	ENST00000425708.2	-	7	3380	c.3039G>T	c.(3037-3039)aaG>aaT	p.K1013N	ZNF445_ENST00000396077.2_Missense_Mutation_p.K1013N			P59923	ZN445_HUMAN	zinc finger protein 445	1013					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		ACCTGAAGGTCTTTCCACACT	0.478000													17	40					2.23348e-06	2.84843e-06	1	1	0
GPRC5C	55890	broad.mit.edu	37	17	72443039	72443039	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:72443039G>T	ENST00000392627.1	+	4	2459	c.1333G>T	c.(1333-1335)Gtg>Ttg	p.V445L	GPRC5C_ENST00000481232.1_3'UTR|GPRC5C_ENST00000582873.1_3'UTR|GPRC5C_ENST00000392629.2_Missense_Mutation_p.V412L|GPRC5C_ENST00000342648.5_Missense_Mutation_p.V85L	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, family C, group 5, member C	400						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						CAACAGCCAGGTGATGGGCAG	0.622000													50	96					1.61863e-15	2.80035e-15	1	1	0
DPM3	54344	broad.mit.edu	37	1	155112639	155112639	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:155112639C>G	ENST00000368399.1	-	1	244	c.168G>C	c.(166-168)ttG>ttC	p.L56F	DPM3_ENST00000341298.3_Missense_Mutation_p.L26F|DPM3_ENST00000368400.4_Missense_Mutation_p.L26F	NM_018973.3	NP_061846.2	Q9P2X0	DPM3_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 3	26					C-terminal protein lipidation|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan|protein N-linked glycosylation via asparagine|protein O-linked mannosylation|regulation of protein stability	dolichol-phosphate-mannose synthase complex|integral to endoplasmic reticulum membrane	protein binding			endometrium(2)	2	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCTCCAGGCCCAAGGCTCCCG	0.637000													6	96					0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54756368	54756368	+	Missense_Mutation	SNP	C	C	A	rs142288703		TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:54756368C>A	ENST00000450632.1	-	10	1569	c.1492G>T	c.(1492-1494)Gac>Tac	p.D498Y	LILRB5_ENST00000345866.6_Missense_Mutation_p.D407Y|LILRB5_ENST00000316219.5_Missense_Mutation_p.D506Y|LILRB5_ENST00000449561.2_Missense_Mutation_p.D507Y			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	506					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)		AGGCCCTGGTCCTTGGGCTCT	0.627000													31	65					1.68575e-08	2.41797e-08	1	1	0
RTDR1	27156	broad.mit.edu	37	22	23406200	23406200	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr22:23406200C>A	ENST00000216036.4	-	5	729	c.533G>T	c.(532-534)tGc>tTc	p.C178F		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region gene 1	178							binding			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		CTCCTGCAGGCAGAGGACCAG	0.587000													25	35					5.35356e-11	8.38515e-11	1	1	0
VENTX	27287	broad.mit.edu	37	10	135053794	135053794	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:135053794C>A	ENST00000325980.9	+	3	1272	c.761C>A	c.(760-762)aCg>aAg	p.T254K		NM_014468.2	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	254					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		ATGCCACAGACGGGGGATGCA	0.652000													8	32					0.00448238	0.00481205	1	1	0
NARF	26502	broad.mit.edu	37	17	80445933	80445933	+	Missense_Mutation	SNP	A	A	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:80445933A>C	ENST00000390006.4	+	11	1568	c.1094A>C	c.(1093-1095)gAg>gCg	p.E365A	NARF_ENST00000309794.10_Missense_Mutation_p.E424A|NARF_ENST00000345415.7_Missense_Mutation_p.E376A|NARF_ENST00000457415.3_Missense_Mutation_p.E470A	NM_001038618.2	NP_001033707.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	424						lamin filament	lamin binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CTGTACCAGGAGTGGCTGGAG	0.617000													58	107					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29933441	29933441	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr13:29933441C>A	ENST00000431530.3	+	6	3036	c.2978C>A	c.(2977-2979)cCg>cAg	p.P993Q		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	983	Localization to the growing distal tip of microtubules.					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						AATGGGTTTCCGCCCAAGCCG	0.597000													5	5					0.000602214	0.000671403	1	1	0
OR10G7	390265	broad.mit.edu	37	11	123909490	123909490	+	Silent	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:123909490A>T	ENST00000330487.5	-	1	227	c.219T>A	c.(217-219)acT>acA	p.T73T		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GCACCGTGACAGTGGAGAACC	0.537000													12	233					0	0	1	0	0
KLF15	28999	broad.mit.edu	37	3	126071103	126071103	+	Silent	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:126071103C>T	ENST00000296233.3	-	2	893	c.663G>A	c.(661-663)ctG>ctA	p.L221L		NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	221						nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		GCTGGATCTGCAGCAACACTG	0.667000													5	28					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9074424	9074424	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:9074424G>T	ENST00000397910.4	-	3	13225	c.13022C>A	c.(13021-13023)aCc>aAc	p.T4341N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4343	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						TTGTGTCTTGGTGACATGAGT	0.488000													13	13					2.68362e-12	4.34837e-12	1	1	0
IGKV1-17	28937	broad.mit.edu	37	2	89417045	89417045	+	RNA	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:89417045C>A	ENST00000490686.1	-	0	165																											CCCTGACTTGCCCGGCAAGTG	0.512000													24	111					1.75199e-13	2.91215e-13	1	1	0
MAATS1	89876	broad.mit.edu	37	3	119466063	119466063	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:119466063G>T	ENST00000273390.5	+	15	2081	c.2004G>T	c.(2002-2004)gaG>gaT	p.E668D	RP11-169N13.4_ENST00000489428.2_RNA	NM_033364.3	NP_203528.2			MYCBP-associated, testis expressed 1																		CAGAAATAGAGAAGATGGCTG	0.408000													9	22					0.000274275	0.000310774	1	1	0
RHOH	399	broad.mit.edu	37	4	40245368	40245368	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr4:40245368G>A	ENST00000381799.4	+	3	1086	c.362G>A	c.(361-363)cGg>cAg	p.R121Q	RHOH_ENST00000505618.1_Missense_Mutation_p.R121Q	NM_001278363.1|NM_001278365.1|NM_004310.3	NP_001265292.1|NP_001265294.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H	121					negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding			kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						ACTGACCAGCGGGAGATGGGG	0.567000													31	55					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92534236	92534236	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:92534236C>A	ENST00000298047.6	+	9	8074	c.8057C>A	c.(8056-8058)cCa>cAa	p.P2686Q	FAT3_ENST00000525166.1_Missense_Mutation_p.P2536Q|FAT3_ENST00000409404.2_Missense_Mutation_p.P2686Q			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2686	Cadherin 24.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGGGGCATCCCAGTAAAGCAC	0.453000										TCGA Ovarian(4;0.039)			10	10					7.48243e-07	9.81645e-07	1	1	0
BBOX1	8424	broad.mit.edu	37	11	27114808	27114808	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:27114808C>A	ENST00000263182.3	+	5	796	c.428C>A	c.(427-429)aCc>aAc	p.T143N	RP11-1L12.3_ENST00000525302.1_RNA|BBOX1_ENST00000528583.1_Missense_Mutation_p.T143N|BBOX1_ENST00000529202.1_Missense_Mutation_p.T143N|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000527505.1_Intron|RP11-1L12.3_ENST00000530430.1_RNA|BBOX1_ENST00000525090.1_Missense_Mutation_p.T143N	NM_003986.2	NP_003977.1	O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	143					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	TGGCTCTCCACCCTCAAGAAA	0.438000													4	15					0.00024832	0.000283026	1	1	0
LRCH3	84859	broad.mit.edu	37	3	197579473	197579473	+	Silent	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:197579473A>T	ENST00000438796.2	+	13	1616	c.1572A>T	c.(1570-1572)ctA>ctT	p.L524L	LRCH3_ENST00000414675.2_Silent_p.L496L|LRCH3_ENST00000425562.2_Silent_p.L524L|LRCH3_ENST00000334859.4_Silent_p.L524L|LRCH3_ENST00000536618.1_Silent_p.L119L|LRCH3_ENST00000441090.2_Silent_p.L370L			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	524						extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		ACCCGCTCCTAGATGGCGTAG	0.388000													12	27					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176738781	176738781	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:176738781C>A	ENST00000367662.3	+	16	5526	c.4362C>A	c.(4360-4362)gaC>gaA	p.D1454E		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1454	Sushi 1.				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						GGCACTGGGACCAGAATGTGA	0.468000													27	90					7.92952e-12	1.26945e-11	1	1	0
NLRP10	338322	broad.mit.edu	37	11	7982110	7982110	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:7982110G>T	ENST00000328600.2	-	2	1210	c.1049C>A	c.(1048-1050)gCg>gAg	p.A350E		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	350	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AACCTGACACGCTTTGTAGAG	0.517000													12	56					5.50884e-06	6.85448e-06	1	1	0
PRMT8	56341	broad.mit.edu	37	12	3686110	3686110	+	Silent	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:3686110C>T	ENST00000382622.3	+	7	1176	c.786C>T	c.(784-786)atC>atT	p.I262I	PRMT8_ENST00000452611.2_Silent_p.I253I|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	262					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			TAGTGGACATCGTGGATCCAA	0.577000													139	129					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25887691	25887691	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:25887691G>A	ENST00000376351.3	+	11	3495	c.3136G>A	c.(3136-3138)Gag>Aag	p.E1046K	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1046						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TTCCTTAAAGGAGAAATCTCA	0.463000													31	52					0	0	1	0	0
FADD	8772	broad.mit.edu	37	11	70052378	70052378	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:70052378G>T	ENST00000301838.4	+	2	723	c.426G>T	c.(424-426)cgG>cgT	p.R142R		NM_003824.3	NP_003815.1	Q13158	FADD_HUMAN	Fas (TNFRSF6)-associated via death domain	142	Death.				activation of caspase activity|activation of pro-apoptotic gene products|cellular response to mechanical stimulus|defense response to virus|induction of apoptosis via death domain receptors|innate immune response|interspecies interaction between organisms|necrotic cell death|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|signal transduction	cytosol	death receptor binding|identical protein binding			endometrium(1)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(2)	9	Esophageal squamous(2;1.19e-45)		LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			AGCGTGTGCGGGAGTCACTGA	0.572000													25	46					1.10923e-09	1.65955e-09	1	1	0
CACNA1H	8912	broad.mit.edu	37	16	1255176	1255176	+	Silent	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr16:1255176G>A	ENST00000348261.5	+	11	2762	c.2514G>A	c.(2512-2514)ctG>ctA	p.L838L	CACNA1H_ENST00000358590.4_Silent_p.L838L|CACNA1H_ENST00000565831.1_Silent_p.L838L	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	838					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)	TGTTTGCCCTGGAGATGCTGC	0.602000													22	57					0	0	1	0	0
TRPM7	54822	broad.mit.edu	37	15	50886681	50886681	+	Silent	SNP	A	A	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr15:50886681A>G	ENST00000313478.7	-	24	3701	c.3420T>C	c.(3418-3420)tcT>tcC	p.S1140S	TRPM7_ENST00000560955.1_Silent_p.S1140S	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1140					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		AGCAAAACAGAGAAACTATAT	0.343000													10	11					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27099864	27099864	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:27099864C>T	ENST00000324856.7	+	15	4114	c.3743C>T	c.(3742-3744)tCa>tTa	p.S1248L	ARID1A_ENST00000374152.2_Missense_Mutation_p.S865L|ARID1A_ENST00000457599.2_Missense_Mutation_p.S1248L|ARID1A_ENST00000540690.1_5'UTR	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1248					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.S1248*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TTCATGTCCTCAGGGCAGGGC	0.587000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								31	63					0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55541364	55541364	+	Missense_Mutation	SNP	T	T	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:55541364T>G	ENST00000361760.1	+	1	451	c.451T>G	c.(451-453)Tat>Gat	p.Y151D		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GGCTGGGTCCTATACATGGGG	0.423000													9	68					0	0	1	0	0
NOX3	50508	broad.mit.edu	37	6	155743924	155743924	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:155743924G>T	ENST00000159060.2	-	10	1314	c.1212C>A	c.(1210-1212)tgC>tgA	p.C404*		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	404							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CCGCGGCAACGCACACACACA	0.532000													18	105					2.35188e-11	3.71046e-11	1	1	0
NID1	4811	broad.mit.edu	37	1	236228241	236228241	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:236228241C>A	ENST00000264187.6	-	1	221	c.139G>T	c.(139-141)Gag>Tag	p.E47*	NID1_ENST00000366595.3_Nonsense_Mutation_p.E47*	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	47					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TCCCCGTCCTCCAGCTCCAGG	0.692000													7	11					0.00198382	0.00215368	1	1	0
SHMT2	6472	broad.mit.edu	37	12	57626980	57626980	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:57626980A>T	ENST00000328923.3	+	8	1327	c.875A>T	c.(874-876)tAc>tTc	p.Y292F	SHMT2_ENST00000557487.1_Missense_Mutation_p.Y282F|SHMT2_ENST00000553474.1_Missense_Mutation_p.Y271F|SHMT2_ENST00000414700.3_Missense_Mutation_p.Y271F|SHMT2_ENST00000449049.3_Missense_Mutation_p.Y271F|SHMT2_ENST00000393827.4_Missense_Mutation_p.Y196F	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	292						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CTCATCTTCTACCGGAAAGGG	0.567000													8	74					0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115222944	115222944	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:115222944G>T	ENST00000369538.3	-	5	837	c.790C>A	c.(790-792)Cca>Aca	p.P264T	AMPD1_ENST00000520113.2_Missense_Mutation_p.P268T|AMPD1_ENST00000353928.6_Missense_Mutation_p.P235T	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	235					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-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)	Adenosine monophosphate(DB00131)	TCCAGATTTGGGTAAGGAAGT	0.408000													11	32					1.58986e-06	2.0517e-06	1	1	0
PIGA	5277	broad.mit.edu	37	X	15349862	15349862	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chrX:15349862C>A	ENST00000333590.4	-	2	275	c.191G>T	c.(190-192)gGg>gTg	p.G64V	PIGA_ENST00000482148.1_5'UTR|PIGA_ENST00000542278.1_Intron|PIGA_ENST00000428964.1_Intron	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	64					C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					AACCTTATGCCCTCTTTCAAT	0.438000													24	42					9.95505e-16	1.72919e-15	1	1	0
DOCK2	1794	broad.mit.edu	37	5	169116265	169116265	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:169116265C>A	ENST00000256935.8	+	9	851	c.771C>A	c.(769-771)taC>taA	p.Y257*		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	257					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTGAGAACTACCTAGTGCGAT	0.522000													11	38					1.58986e-06	2.0517e-06	1	1	0
TNS3	64759	broad.mit.edu	37	7	47407970	47407970	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:47407970C>A	ENST00000398879.1	-	17	2639	c.2273G>T	c.(2272-2274)gGg>gTg	p.G758V	TNS3_ENST00000311160.9_Missense_Mutation_p.G758V|TNS3_ENST00000355730.3_Missense_Mutation_p.G518V			Q68CZ2	TENS3_HUMAN	tensin 3	758						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						ACCTTGCCGCCCGGTGGCCCT	0.632000													132	145					6.25873e-39	1.27449e-38	1	1	0
HCAR3	8843	broad.mit.edu	37	12	123201018	123201018	+	Silent	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:123201018C>T	ENST00000528880.2	-	1	421	c.267G>A	c.(265-267)cgG>cgA	p.R89R	HCAR1_ENST00000356987.2_Intron	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	89						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Mepenzolate(DB04843)|Niacin(DB00627)	AGTCTGAACGCCGCACATAGT	0.542000													28	68					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119116068	119116068	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:119116068C>A	ENST00000328252.3	+	17	4712	c.4343C>A	c.(4342-4344)tCc>tAc	p.S1448Y	PAPPA_ENST00000534838.1_Missense_Mutation_p.S486Y	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1448	Sushi 4.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						AGTGATGCCTCCCAGGTAAGC	0.468000													10	43					0.00621372	0.00662974	1	1	0
IL16	3603	broad.mit.edu	37	15	81592789	81592789	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr15:81592789C>A	ENST00000394660.2	+	14	3482	c.3122C>A	c.(3121-3123)tCt>tAt	p.S1041Y	IL16_ENST00000302987.4_Missense_Mutation_p.S1041Y|IL16_ENST00000394652.2_Missense_Mutation_p.S340Y	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	1041	Interaction with HTLV-1 tax.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GCTGAAACATCTGCCTTGGAC	0.443000													14	39					1.5842e-08	2.27983e-08	1	1	0
CNBP	7555	broad.mit.edu	37	3	128889925	128889925	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:128889925T>C	ENST00000422453.2	-	4	573	c.413A>G	c.(412-414)tAt>tGt	p.Y138C	CNBP_ENST00000446936.2_Missense_Mutation_p.Y133C|CNBP_ENST00000502976.1_Missense_Mutation_p.Y131C|CNBP_ENST00000441626.2_Missense_Mutation_p.Y140C|CNBP_ENST00000451728.2_Missense_Mutation_p.Y139C|CNBP_ENST00000500450.2_Missense_Mutation_p.Y121C|CNBP_ENST00000504813.1_Missense_Mutation_p.Y128C	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN	CCHC-type zinc finger, nucleic acid binding protein	138					cholesterol biosynthetic process	endoplasmic reticulum	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						ACCTTACCTATAGCACTTCAC	0.418000													14	73					0	0	1	0	0
SFSWAP	6433	broad.mit.edu	37	12	132271013	132271013	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:132271013G>C	ENST00000261674.4	+	15	2555	c.2414G>C	c.(2413-2415)cGc>cCc	p.R805P	SFSWAP_ENST00000539506.1_3'UTR|SFSWAP_ENST00000541286.1_Missense_Mutation_p.R857P	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)	805	Arg/Ser-rich (RS domain).				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						TCCAGGTCCCGCTCCCGGTCC	0.682000													4	7					0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46390667	46390667	+	Silent	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr4:46390667C>G	ENST00000507460.1	-	2	389	c.57G>C	c.(55-57)gtG>gtC	p.V19V	GABRA2_ENST00000514090.1_Silent_p.V19V|GABRA2_ENST00000510861.1_Silent_p.V19V|GABRA2_ENST00000356504.1_Silent_p.V19V|GABRA2_ENST00000515082.1_Silent_p.V19V|GABRA2_ENST00000540012.1_5'UTR|GABRA2_ENST00000509716.1_5'UTR|GABRA2_ENST00000381620.4_Silent_p.V19V|GABRA2_ENST00000507069.1_Silent_p.V19V			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	19					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CAGGGTCCCACACCAAGAAAA	0.373000													6	18					0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106967625	106967625	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:106967625C>T	ENST00000369066.3	+	2	1805	c.1318C>T	c.(1318-1320)Cct>Tct	p.P440S		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	440							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)		CAAAGATTTACCTCCAACGGC	0.512000													37	24					0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160146332	160146332	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:160146332A>G	ENST00000368081.4	+	17	3001	c.2530A>G	c.(2530-2532)Aac>Gac	p.N844D	ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	844					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCTTCCAAGGAACCCAAAGAC	0.557000													14	38					0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7755207	7755207	+	Nonsense_Mutation	SNP	T	T	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:7755207T>G	ENST00000358415.4	+	5	592	c.426T>G	c.(424-426)taT>taG	p.Y142*	ITIH2_ENST00000480387.1_3'UTR|ITIH2_ENST00000379587.4_Nonsense_Mutation_p.Y131*	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	142	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GAGCTCTTTATGCACAGGCCA	0.502000													5	14					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	77746625	77746625	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:77746625G>C	ENST00000409088.3	-	3	784	c.370C>G	c.(370-372)Ctg>Gtg	p.L124V	LRRTM4_ENST00000409282.1_Missense_Mutation_p.L125V|LRRTM4_ENST00000409093.1_Missense_Mutation_p.L124V|LRRTM4_ENST00000409884.1_Missense_Mutation_p.L124V|LRRTM4_ENST00000409911.1_Missense_Mutation_p.L125V	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	124						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TTATTGTGCAGATAAGTAATT	0.378000													6	16					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11672529	11672529	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:11672529A>G	ENST00000262442.3	+	38	7503	c.7435A>G	c.(7435-7437)Acg>Gcg	p.T2479A	DNAH9_ENST00000454412.2_Missense_Mutation_p.T2479A	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2479	AAA 3 (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)		GCTGGTGGGCACGGCTGGCAC	0.602000													45	36					0	0	1	0	0
AKAP4	8852	broad.mit.edu	37	X	49957326	49957326	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chrX:49957326G>T	ENST00000376056.2	-	5	2161	c.2011C>A	c.(2011-2013)Cat>Aat	p.H671N	AKAP4_ENST00000358526.2_Missense_Mutation_p.H680N|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Missense_Mutation_p.H297N|AKAP4_ENST00000376064.3_Missense_Mutation_p.H671N			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	680					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					AGTTCTTGATGCTCCTGGCAT	0.468000													15	29					7.93312e-07	1.03608e-06	1	1	0
PRPF8	10594	broad.mit.edu	37	17	1558656	1558656	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:1558656C>A	ENST00000572621.1	-	36	6240	c.5975G>T	c.(5974-5976)gGc>gTc	p.G1992V	PRPF8_ENST00000304992.6_Missense_Mutation_p.G1992V			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1992	Involved in interaction with pre-mRNA 5' splice site.					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GTTTTTCTTGCCGTAGTCAGC	0.478000													21	15					7.41877e-09	1.07746e-08	1	1	0
GALR2	8811	broad.mit.edu	37	17	74071306	74071306	+	Silent	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:74071306C>T	ENST00000329003.3	+	1	432	c.342C>T	c.(340-342)ttC>ttT	p.F114F		NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	114					digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						CCAGCAGCTTCACGCTGGCCG	0.677000													26	71					0	0	1	0	0
SNX8	29886	broad.mit.edu	37	7	2302873	2302873	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:2302873C>A	ENST00000222990.3	-	7	949	c.907G>T	c.(907-909)Gca>Tca	p.A303S		NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	303					cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		ACCTGTTGTGCAGCCTTGTCG	0.607000													14	51					6.31663e-08	8.74261e-08	1	1	0
HAGHL	84264	broad.mit.edu	37	16	777537	777537	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr16:777537G>C	ENST00000549114.1	+	2	331	c.28G>C	c.(28-30)Gag>Cag	p.E10Q	HAGHL_ENST00000389703.3_Missense_Mutation_p.E10Q|HAGHL_ENST00000564537.1_Missense_Mutation_p.E10Q|HAGHL_ENST00000341413.4_Missense_Mutation_p.E10Q|HAGHL_ENST00000561546.1_Missense_Mutation_p.E10Q|HAGHL_ENST00000564545.1_Missense_Mutation_p.E10Q			Q6PII5	HAGHL_HUMAN	hydroxyacylglutathione hydrolase-like	10							hydrolase activity|metal ion binding			lung(3)	3		Hepatocellular(780;0.00335)				CCCCGTGCTCGAGGACAACTA	0.687000													9	17					0	0	1	0	0
FGD2	221472	broad.mit.edu	37	6	36981768	36981768	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:36981768C>A	ENST00000274963.8	+	6	886	c.715C>A	c.(715-717)Cag>Aag	p.Q239K		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	239	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						CCTGACCCTGCAGCACCACAT	0.632000													8	96					5.18039e-06	6.50169e-06	1	1	0
KRTAP13-2	337959	broad.mit.edu	37	21	31744017	31744017	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr21:31744017C>A	ENST00000399889.2	-	1	540	c.515G>T	c.(514-516)aGa>aTa	p.R172I		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	172						intermediate filament				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						GCAAGTTGATCTGCAGAAGGT	0.483000													8	72					7.48243e-07	9.81645e-07	1	1	0
ZNF695	57116	broad.mit.edu	37	1	247151522	247151522	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:247151522C>A	ENST00000339986.7	-	4	442	c.295G>T	c.(295-297)Gag>Tag	p.E99*	ZNF695_ENST00000487338.2_Nonsense_Mutation_p.E99*|ZNF695_ENST00000498046.2_5'UTR	NM_020394.4	NP_065127.4	Q8IW36	ZN695_HUMAN	zinc finger protein 695	99					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			AGGCCCTGCTCTGGCAAAATG	0.358000													11	27					1.58986e-06	2.0517e-06	1	1	0
ARMC3	219681	broad.mit.edu	37	10	23248021	23248021	+	Silent	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:23248021G>A	ENST00000298032.5	+	5	399	c.315G>A	c.(313-315)agG>agA	p.R105R	ARMC3_ENST00000464017.1_3'UTR|ARMC3_ENST00000376528.4_5'UTR|ARMC3_ENST00000409049.3_Silent_p.R105R|ARMC3_ENST00000409983.3_Silent_p.R105R	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	105							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AATTGTTAAGGGAGTTAGATG	0.358000													9	28					0	0	1	0	0
GMPPA	29926	broad.mit.edu	37	2	220366640	220366640	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:220366640G>T	ENST00000358215.3	+	5	679	c.310G>T	c.(310-312)Gct>Tct	p.A104S	GMPPA_ENST00000373908.1_Missense_Mutation_p.A104S|GMPPA_ENST00000373917.3_Missense_Mutation_p.A104S|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000341142.3_Missense_Mutation_p.A104S|GMPPA_ENST00000313597.5_Missense_Mutation_p.A104S	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	104					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		CCAGATCCTGGCTGGGAGCCC	0.597000													75	114					2.18329e-32	4.38932e-32	1	1	0
EPHB6	2051	broad.mit.edu	37	7	142561853	142561853	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:142561853G>T	ENST00000392957.2	+	7	1082	c.295G>T	c.(295-297)Ggg>Tgg	p.G99W	EPHB6_ENST00000442129.1_Missense_Mutation_p.G99W|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	99						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GGAGCGGCGCGGGGCCCAGAG	0.647000													115	136					5.4258e-56	1.12198e-55	1	1	0
ACSS3	79611	broad.mit.edu	37	12	81532915	81532915	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:81532915G>T	ENST00000548058.1	+	4	1561	c.651G>T	c.(649-651)aaG>aaT	p.K217N	ACSS3_ENST00000261206.3_Missense_Mutation_p.K216N			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	217						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TGTAGCCCAAGGTGGTTGTTA	0.363000													7	9					0.248553	0.250863	1	1	0
LRRC66	339977	broad.mit.edu	37	4	52861967	52861967	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr4:52861967T>A	ENST00000343457.3	-	4	1227	c.1221A>T	c.(1219-1221)aaA>aaT	p.K407N		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	407						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TCTGGCACTTTTTTTGCCACA	0.557000													47	82					0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150828195	150828195	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chrX:150828195A>T	ENST00000370357.4	+	10	973	c.728A>T	c.(727-729)gAt>gTt	p.D243V		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	243						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GACCAAATTGATATTGCAGAG	0.368000													10	7					0	0	1	0	0
POU2F2	5452	broad.mit.edu	37	19	42600075	42600075	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:42600075C>A	ENST00000389341.5	-	9	688	c.622G>T	c.(622-624)Gtg>Ttg	p.V208L	POU2F2_ENST00000529952.1_Missense_Mutation_p.V224L|POU2F2_ENST00000529067.1_Missense_Mutation_p.V208L|POU2F2_ENST00000526816.2_Missense_Mutation_p.V224L|POU2F2_ENST00000342301.4_Missense_Mutation_p.V224L|POU2F2_ENST00000560558.1_Missense_Mutation_p.V169L|POU2F2_ENST00000560398.1_Missense_Mutation_p.V230L|POU2F2_ENST00000533720.1_Missense_Mutation_p.V208L	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN	POU class 2 homeobox 2	224	POU-specific.				humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				GCCAGGCCCACATCACCCTGG	0.677000													15	67					6.31663e-08	8.74261e-08	1	1	0
FAM47C	442444	broad.mit.edu	37	X	37028554	37028554	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chrX:37028554C>A	ENST00000358047.3	+	1	2123	c.2071C>A	c.(2071-2073)Cgc>Agc	p.R691S		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	691								p.R691C(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						ATCTCATCTCCGCCCAGAGCC	0.657000													63	36					5.10652e-33	1.02901e-32	1	1	0
CTPS1	1503	broad.mit.edu	37	1	41461604	41461604	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:41461604G>A	ENST00000372621.4	+	8	1244	c.736G>A	c.(736-738)Gat>Aat	p.D246N	CTPS1_ENST00000543104.1_Missense_Mutation_p.D253N|CTPS1_ENST00000372616.1_Missense_Mutation_p.D246N|CTPS1_ENST00000541520.1_Missense_Mutation_p.D15N	NM_001905.2	NP_001896.2	P17812	PYRG1_HUMAN	CTP synthase 1	246					CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding			endometrium(3)|lung(10)	13					L-Glutamine(DB00130)	CTGTGTCCACGATGTCTCATC	0.423000													16	16					0	0	1	0	0
TRIP11	9321	broad.mit.edu	37	14	92471927	92471927	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr14:92471927G>A	ENST00000267622.4	-	11	2766	c.2393C>T	c.(2392-2394)tCt>tTt	p.S798F		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	798					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTCTAAACTAGATGACAAAAC	0.313000			T	PDGFRB	AML								11	47					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166848428	166848428	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:166848428A>T	ENST00000423058.2	-	26	5374	c.5357T>A	c.(5356-5358)cTg>cAg	p.L1786Q	SCN1A_ENST00000409050.1_Missense_Mutation_p.L1758Q|SCN1A_ENST00000303395.4_Missense_Mutation_p.L1786Q|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.L1775Q|AC010127.3_ENST00000597623.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1786						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GAAGTTCTCCAGGATGACCGC	0.448000													20	95					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152277654	152277654	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:152277654G>T	ENST00000368799.1	-	3	9743	c.9708C>A	c.(9706-9708)tcC>tcA	p.S3236S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3236	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATGGTTTCTGGAAGCAGACC	0.597000									Ichthyosis				180	712					1.38673e-77	2.8882e-77	1	1	0
TMEM119	338773	broad.mit.edu	37	12	108985460	108985460	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:108985460C>T	ENST00000392806.3	-	2	868	c.700G>A	c.(700-702)Gag>Aag	p.E234K		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	234						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						GAGCACGGCTCCTCCTGCGCC	0.672000													34	117					0	0	1	0	0
NAT10	55226	broad.mit.edu	37	11	34144128	34144128	+	Silent	SNP	G	G	T	rs142807420		TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:34144128G>T	ENST00000257829.3	+	9	1109	c.903G>T	c.(901-903)gcG>gcT	p.A301A	NAT10_ENST00000531159.2_Silent_p.A229A|NAT10_ENST00000527971.1_Intron	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	301						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				TTGCTGGGGCGGTGGCATTTG	0.572000													7	30					8.12818e-05	9.53963e-05	1	1	0
HS3ST1	9957	broad.mit.edu	37	4	11401288	11401288	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr4:11401288C>G	ENST00000002596.5	-	2	1516	c.342G>C	c.(340-342)caG>caC	p.Q114H		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	114						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						CCACTGTGAGCTGGTGTGGCC	0.617000													18	103					0	0	1	0	0
ORC3	23595	broad.mit.edu	37	6	88331672	88331672	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:88331672G>T	ENST00000392844.3	+	11	1174	c.1126G>T	c.(1126-1128)Gtg>Ttg	p.V376L	ORC3_ENST00000546266.1_Missense_Mutation_p.V233L|ORC3_ENST00000257789.4_Missense_Mutation_p.V376L|ORC3_ENST00000417380.2_Missense_Mutation_p.V323L	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	376					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						TTCTAGGTACGTGGAAAAGCA	0.338000													10	10					0.000673444	0.000748415	1	1	0
LARP6	55323	broad.mit.edu	37	15	71125350	71125350	+	Missense_Mutation	SNP	C	C	A	rs139763338		TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr15:71125350C>A	ENST00000299213.8	-	3	587	c.517G>T	c.(517-519)Gtc>Ttc	p.V173F		NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	173	HTH La-type RNA-binding.				RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						AACAGTGGGACGGGGGTGGTC	0.547000													8	30					3.09899e-07	4.1471e-07	1	1	0
NLRP4	147945	broad.mit.edu	37	19	56369782	56369782	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:56369782G>T	ENST00000301295.6	+	3	1445	c.1023G>T	c.(1021-1023)ccG>ccT	p.P341P	NLRP4_ENST00000346986.5_Silent_p.P341P|NLRP4_ENST00000587891.1_Silent_p.P266P	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	341	NACHT.						ATP binding	p.P341P(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GCCAAATCCCGCTCCTCTGCT	0.473000													28	36					6.32553e-13	1.04048e-12	1	1	0
CALCOCO1	57658	broad.mit.edu	37	12	54110077	54110077	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:54110077C>T	ENST00000548263.1	-	8	1020	c.972G>A	c.(970-972)atG>atA	p.M324I	CALCOCO1_ENST00000262059.4_Missense_Mutation_p.M324I|CALCOCO1_ENST00000550804.1_Missense_Mutation_p.M324I|CALCOCO1_ENST00000430117.2_Intron			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	324					steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						GGGTGTCCTTCATCTGGGCCA	0.567000													70	78					0	0	1	0	0
IGKV3-20	28912	broad.mit.edu	37	2	89442180	89442180	+	RNA	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:89442180C>A	ENST00000492167.1	-	0	276																											TGCCAGTGGCCCTGCTGGATG	0.562000													22	86					5.26018e-13	8.69356e-13	1	1	0
OR6K6	128371	broad.mit.edu	37	1	158725116	158725116	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:158725116C>A	ENST00000368144.2	+	1	607	c.511C>A	c.(511-513)Cag>Aag	p.Q171K		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					ACTTTGTATCCAGCTGACAGT	0.488000													30	52					2.36697e-06	3.01646e-06	1	1	0
LINC00471	151477	broad.mit.edu	37	2	232373737	232373737	+	RNA	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:232373737C>A	ENST00000313064.2	-	0	681					NR_024079.1																						CGGGAATTGCCAAGGCAGTTT	0.483000													13	46					0.00136819	0.00149657	1	1	0
COL11A1	1301	broad.mit.edu	37	1	103468329	103468329	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:103468329C>A	ENST00000358392.2	-	22	2370	c.2053G>T	c.(2053-2055)Ggc>Tgc	p.G685C	COL11A1_ENST00000353414.4_Missense_Mutation_p.G634C|COL11A1_ENST00000370096.3_Missense_Mutation_p.G673C|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000512756.1_Missense_Mutation_p.G557C	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	673	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCTGGGGGGCCATCTACACCT	0.323000													7	12					0.00198382	0.00215368	1	1	0
UNC13A	23025	broad.mit.edu	37	19	17737456	17737456	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:17737456G>T	ENST00000428389.2	-	35	4322	c.4323C>A	c.(4321-4323)gaC>gaA	p.D1441E	UNC13A_ENST00000252773.7_Missense_Mutation_p.D1353E|UNC13A_ENST00000519716.2_Missense_Mutation_p.D1353E|UNC13A_ENST00000551649.1_Missense_Mutation_p.D1353E|UNC13A_ENST00000550896.1_Missense_Mutation_p.D1351E|UNC13A_ENST00000552293.1_Missense_Mutation_p.D1353E			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1353	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						TGTCCAGCAGGTCCATGATGG	0.652000													6	4					0.00116845	0.00128212	1	1	0
SVILP1	645954	broad.mit.edu	37	10	30987254	30987254	+	RNA	SNP	T	T	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:30987254T>G	ENST00000435645.1	+	0	431																											ACCAGCTACTTTGCAATGTAA	0.408000													4	26					0	0	1	0	0
GKN2	200504	broad.mit.edu	37	2	69177348	69177348	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:69177348C>A	ENST00000481498.1	-	3	132	c.114G>T	c.(112-114)gaG>gaT	p.E38D	GKN2_ENST00000328895.4_Missense_Mutation_p.E38D			Q86XP6	GKN2_HUMAN	gastrokine 2	38						extracellular region				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						TTGTCACTGTCTCCTGAACAT	0.333000													3	13					0.115264	0.117981	1	1	0
SPATA18	132671	broad.mit.edu	37	4	52943114	52943114	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr4:52943114T>A	ENST00000295213.4	+	7	1302	c.928T>A	c.(928-930)Tat>Aat	p.Y310N	SPATA18_ENST00000419395.2_Missense_Mutation_p.Y278N	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	310	Ser-rich.				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			CAGCGATTCCTATTCCCAGGC	0.627000													14	51					0	0	1	0	0
RNASE2	6036	broad.mit.edu	37	14	21424287	21424287	+	Silent	SNP	T	T	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr14:21424287T>C	ENST00000304625.2	+	2	447	c.357T>C	c.(355-357)aaT>aaC	p.N119N		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	119					chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity			breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		GTCCACAGAATATTTCAAACT	0.453000													14	53					0	0	1	0	0
D2HGDH	728294	broad.mit.edu	37	2	242695429	242695429	+	Splice_Site	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:242695429G>T	ENST00000321264.4	+	9	1515	c.1306_splice	c.e9+1	p.G436_splice	D2HGDH_ENST00000403782.1_Splice_Site_p.G302_splice|D2HGDH_ENST00000486953.1_3'UTR	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	436			G -> V.		2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TGGCCACCTTGGTGAgcggcg	0.711000													18	64					1.67942e-08	2.41086e-08	1	1	0
IGF2R	3482	broad.mit.edu	37	6	160464296	160464296	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:160464296G>A	ENST00000356956.1	+	12	1745	c.1597G>A	c.(1597-1599)Gag>Aag	p.E533K		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	533					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		AGGGTGTCCCGAGGACGCGGC	0.493000													25	89					0	0	1	0	0
SYN3	8224	broad.mit.edu	37	22	32934045	32934045	+	Silent	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr22:32934045C>T	ENST00000358763.2	-	9	1211	c.969G>A	c.(967-969)ctG>ctA	p.L323L	SYN3_ENST00000332840.5_Silent_p.L323L	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	323	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CCACCTGCTCCAGCATGGCAG	0.537000													14	51					0	0	1	0	0
KCNJ10	3766	broad.mit.edu	37	1	160012206	160012206	+	Silent	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:160012206C>G	ENST00000368089.3	-	2	343	c.117G>C	c.(115-117)gtG>gtC	p.V39V		NM_002241.4	NP_002232.2	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	39						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCTCCATTCTCACGTTGCTGC	0.542000													49	100					0	0	1	0	0
DHX9	1660	broad.mit.edu	37	1	182845206	182845206	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:182845206G>T	ENST00000367549.3	+	17	1947	c.1837G>T	c.(1837-1839)Ggt>Tgt	p.G613C		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	613					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						CTTGATCTGTGGTGATGAATA	0.378000													12	24					1.08611e-07	1.48315e-07	1	1	0
ANKRD30B	374860	broad.mit.edu	37	18	14851567	14851567	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr18:14851567G>T	ENST00000358984.4	+	36	3447	c.3267G>T	c.(3265-3267)aaG>aaT	p.K1089N		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1174										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TGTTGAAAAAGGAAATTGCCA	0.303000													3	7					1	1	1	1	0
BTK	695	broad.mit.edu	37	X	100611144	100611144	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chrX:100611144C>A	ENST00000308731.7	-	15	1625	c.1462G>T	c.(1462-1464)Gag>Tag	p.E488*	BTK_ENST00000372880.1_Intron	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	488	Protein kinase.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TGGCGCATCTCCCTCAGGTAG	0.542000									Agammaglobulinemia, X-linked				57	21					3.4597e-24	6.67722e-24	1	1	0
ITGB3	3690	broad.mit.edu	37	17	45351865	45351865	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:45351865G>A	ENST00000559488.1	+	2	176	c.160G>A	c.(160-162)Gat>Aat	p.D54N	ITGB3_ENST00000571680.1_Missense_Mutation_p.D54N|ITGB3_ENST00000560629.1_Silent_p.*42*|ITGB3_ENST00000435993.2_Missense_Mutation_p.D7N	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	54					activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	CTGGTGCTCTGATGAGGTAAG	0.527000													40	234					0	0	1	0	0
GIF	2694	broad.mit.edu	37	11	59603354	59603354	+	Missense_Mutation	SNP	T	T	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:59603354T>G	ENST00000541311.1	-	7	1159	c.925A>C	c.(925-927)Aat>Cat	p.N309H	GIF_ENST00000257248.2_Missense_Mutation_p.N334H			P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	334					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						ACACTAACATTGATGGTCTCG	0.453000													22	75					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1269679	1269679	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:1269679C>A	ENST00000447027.1	+	31	11636	c.11578C>A	c.(11578-11580)Cca>Aca	p.P3860T	MUC5B_ENST00000529681.1_Missense_Mutation_p.P3857T|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3857	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTCTTCCACCCCAGGAACAGC	0.647000													40	138					1.67305e-13	2.79431e-13	1	1	0
IRAK1	3654	broad.mit.edu	37	X	153279570	153279570	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chrX:153279570C>A	ENST00000369980.3	-	11	1629	c.1462G>T	c.(1462-1464)Gag>Tag	p.E488*	IRAK1_ENST00000429936.2_Nonsense_Mutation_p.E514*|IRAK1_ENST00000477274.1_Intron|IRAK1_ENST00000393687.2_Nonsense_Mutation_p.E488*|IRAK1_ENST00000369974.2_Intron|IRAK1_ENST00000393682.1_Intron	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	488	Protein kinase.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|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|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGGCCCAGCTCAGGTGGGCAG	0.682000													29	10					1.17739e-12	1.92393e-12	1	1	0
CAST	831	broad.mit.edu	37	5	96103157	96103157	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:96103157C>T	ENST00000395813.1	+	28	2332	c.2146C>T	c.(2146-2148)Cca>Tca	p.P716S	CAST_ENST00000508608.1_Missense_Mutation_p.P679S|CAST_ENST00000325674.7_Missense_Mutation_p.P681S|CAST_ENST00000510756.1_Missense_Mutation_p.P694S|CAST_ENST00000359176.4_Missense_Mutation_p.P697S|CAST_ENST00000515663.1_Missense_Mutation_p.P356S|CAST_ENST00000309190.5_Missense_Mutation_p.P611S|CAST_ENST00000395812.2_Missense_Mutation_p.P675S|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000338252.3_Missense_Mutation_p.P620S|CAST_ENST00000341926.3_Missense_Mutation_p.P633S|CAST_ENST00000508579.1_Missense_Mutation_p.P348S|CAST_ENST00000508830.1_Missense_Mutation_p.P716S|CAST_ENST00000509903.1_Missense_Mutation_p.P598S|CAST_ENST00000511049.1_Missense_Mutation_p.P618S|CAST_ENST00000504465.1_Missense_Mutation_p.P561S|ERAP1_ENST00000296754.3_Intron|CAST_ENST00000511782.1_Missense_Mutation_p.P619S			P20810	ICAL_HUMAN	calpastatin	633							calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		ACCAGTGAAGCCACCTACAAA	0.353000													3	8					0	0	1	0	0
POSTN	10631	broad.mit.edu	37	13	38161053	38161053	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr13:38161053T>A	ENST00000379747.4	-	6	736	c.619A>T	c.(619-621)Aat>Tat	p.N207Y	POSTN_ENST00000379749.4_Missense_Mutation_p.N207Y|POSTN_ENST00000541481.1_Missense_Mutation_p.N207Y|POSTN_ENST00000379742.4_Missense_Mutation_p.N207Y|POSTN_ENST00000379743.4_Missense_Mutation_p.N207Y|POSTN_ENST00000541179.1_Missense_Mutation_p.N207Y	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	207	FAS1 1.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CGAGCACAATTAACAGTGACA	0.398000													3	6					0	0	1	0	0
ZBTB6	10773	broad.mit.edu	37	9	125673595	125673595	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:125673595G>C	ENST00000373659.3	-	2	845	c.757C>G	c.(757-759)Cat>Gat	p.H253D		NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						ATCAATGAATGCTGTGTTTCA	0.418000													4	14					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175375785	175375785	+	Silent	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:175375785C>G	ENST00000367674.1	-	3	774	c.66G>C	c.(64-66)ctG>ctC	p.L22L	TNR_ENST00000263525.2_Silent_p.L22L	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	22					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCATGGAGCCCAGAAGGATCA	0.542000													108	123					0	0	1	0	0
IFFO1	25900	broad.mit.edu	37	12	6665027	6665027	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:6665027C>A	ENST00000336604.4	-	1	210	c.169G>T	c.(169-171)Ggc>Tgc	p.G57C	IFFO1_ENST00000356896.4_Missense_Mutation_p.G57C|IFFO1_ENST00000396840.2_Missense_Mutation_p.G57C	NM_080730.4	NP_542768.2	Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	57						intermediate filament				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						ggggccgggcccggcccgggc	0.726000													25	14					1.96895e-08	2.81024e-08	1	1	0
PAPOLB	56903	broad.mit.edu	37	7	4899635	4899635	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:4899635T>C	ENST00000404991.1	-	1	1990	c.1804A>G	c.(1804-1806)Att>Gtt	p.I602V	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	602					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		GATGGAGAAATGGCAGGCTGA	0.438000													4	25					0	0	1	0	0
C12orf50	160419	broad.mit.edu	37	12	88391955	88391955	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:88391955T>C	ENST00000298699.2	-	4	326	c.146A>G	c.(145-147)cAg>cGg	p.Q49R	C12orf50_ENST00000550553.1_Missense_Mutation_p.Q49R	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	49										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						AATTTCTTTCTGTAGTGTGAT	0.378000													4	9					0	0	1	0	0
MB21D2	151963	broad.mit.edu	37	3	192516574	192516574	+	Silent	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:192516574C>T	ENST00000392452.2	-	2	1397	c.1077G>A	c.(1075-1077)ctG>ctA	p.L359L		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	359										endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						CGATGAGGCCCAGCAAAAAGT	0.517000													15	78					0	0	1	0	0
KANK1	23189	broad.mit.edu	37	9	713021	713021	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:713021C>G	ENST00000382303.1	+	7	2907	c.2255C>G	c.(2254-2256)tCa>tGa	p.S752*	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Nonsense_Mutation_p.S752*|KANK1_ENST00000382293.3_Nonsense_Mutation_p.S594*	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	752					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GACAGGCCATCAGCTGTGAAG	0.502000													15	63					0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47676491	47676491	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr4:47676491G>T	ENST00000273857.4	-	10	1275	c.1276C>A	c.(1276-1278)Caa>Aaa	p.Q426K	CORIN_ENST00000505909.1_Missense_Mutation_p.Q389K|CORIN_ENST00000504584.1_Missense_Mutation_p.Q389K|CORIN_ENST00000508498.1_Missense_Mutation_p.Q287K|CORIN_ENST00000502252.1_Missense_Mutation_p.Q359K	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	426					peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						AGGCATCTTTGGTCTCCTTCT	0.433000													7	19					0.00307968	0.00331849	1	1	0
ALOX15B	247	broad.mit.edu	37	17	7945724	7945724	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:7945724G>A	ENST00000380183.4	+	4	626	c.487G>A	c.(487-489)Gat>Aat	p.D163N	ALOX15B_ENST00000573359.1_Missense_Mutation_p.D163N|ALOX15B_ENST00000380173.2_Missense_Mutation_p.D163N|ALOX15B_ENST00000572022.1_Missense_Mutation_p.D163N	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	163	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						TCACTGCCTGGATGAAAAGAC	0.532000													38	19					0	0	1	0	0
ADAM10	102	broad.mit.edu	37	15	58902554	58902554	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr15:58902554C>A	ENST00000260408.3	-	14	2410	c.1967G>T	c.(1966-1968)aGg>aTg	p.R656M	ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000396140.2_Missense_Mutation_p.R355M|ADAM10_ENST00000402627.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	656	Cys-rich.				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		TTTTTTAAGCCTAGCTAGAGG	0.383000													11	29					0.000673444	0.000748415	1	1	0
GOLGA8A	23015	broad.mit.edu	37	15	34673670	34673670	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr15:34673670C>A	ENST00000543376.1	-	23	4079	c.1325G>T	c.(1324-1326)gGc>gTc	p.G442V	GOLGA8A_ENST00000359187.4_Missense_Mutation_p.G585V|GOLGA8A_ENST00000360553.3_Missense_Mutation_p.G585V|GOLGA8A_ENST00000432566.2_Missense_Mutation_p.G615V			A7E2F4	GOG8A_HUMAN	golgin A8 family, member A	613						Golgi cisterna membrane							all_lung(180;2.78e-08)		all cancers(64;8.27e-19)|GBM - Glioblastoma multiforme(113;6.98e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		GCAGTTGCTGCCCAAGCCTGG	0.537000													19	47					1.75199e-13	2.91215e-13	1	1	0
MUC16	94025	broad.mit.edu	37	19	9088250	9088250	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:9088250G>T	ENST00000397910.4	-	1	3768	c.3565C>A	c.(3565-3567)Cgg>Agg	p.R1189R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1189	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						ATGTTCCACCGACTAGTTTCA	0.463000													55	75					1.86277e-20	3.47917e-20	1	1	0
PRPH2	5961	broad.mit.edu	37	6	42672217	42672217	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:42672217G>T	ENST00000230381.5	-	2	953	c.714C>A	c.(712-714)caC>caA	p.H238Q		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	238					cell adhesion|visual perception	integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			CCTCCGTCTGGTGGTCGTAAC	0.592000													20	35					2.94398e-08	4.17445e-08	1	1	0
CDH24	64403	broad.mit.edu	37	14	23521747	23521747	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr14:23521747G>T	ENST00000397359.3	-	8	1557	c.1298C>A	c.(1297-1299)aCa>aAa	p.T433K	CDH24_ENST00000267383.5_Missense_Mutation_p.T433K|CDH24_ENST00000487137.2_Missense_Mutation_p.T433K|CDH24_ENST00000554034.1_Missense_Mutation_p.T433K	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	433	Cadherin 4.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		GGGTGCTGCTGTATGGATGGT	0.637000													33	45					5.60225e-13	9.24132e-13	1	1	0
MTMR12	54545	broad.mit.edu	37	5	32248974	32248974	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:32248974C>A	ENST00000382142.3	-	9	970	c.800G>T	c.(799-801)tGg>tTg	p.W267L	MTMR12_ENST00000264934.5_Missense_Mutation_p.W267L|MTMR12_ENST00000280285.5_Missense_Mutation_p.W267L	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	267	Myotubularin phosphatase.					cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GTGGCAGGACCAACACCATAT	0.403000													21	29					8.10497e-08	1.11644e-07	1	1	0
CACNA1E	777	broad.mit.edu	37	1	181480531	181480531	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:181480531G>A	ENST00000526775.1	+	3	562	c.397G>A	c.(397-399)Ggg>Agg	p.G133R	CACNA1E_ENST00000358338.5_Missense_Mutation_p.G84R|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G133R|CACNA1E_ENST00000367573.2_Missense_Mutation_p.G133R|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G84R|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G133R	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	133					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						TTATTTCATTGGGATCTTTTG	0.488000													55	157					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111694254	111694254	+	Silent	SNP	T	T	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:111694254T>C	ENST00000435970.1	-	15	5886	c.5070A>G	c.(5068-5070)gaA>gaG	p.E1690E	REV3L_ENST00000368802.3_Silent_p.E1768E|REV3L_ENST00000368805.1_Silent_p.E1768E|REV3L_ENST00000358835.3_Silent_p.E1768E			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1768					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTAGACAGTCTTCTGCCTGCT	0.413000								DNA polymerases (catalytic subunits)					21	15					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135405269	135405269	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chrX:135405269C>A	ENST00000394143.1	+	5	694	c.403C>A	c.(403-405)Ctc>Atc	p.L135I	GPR112_ENST00000412101.1_Intron|GPR112_ENST00000394141.1_Intron|GPR112_ENST00000370652.1_Missense_Mutation_p.L135I|GPR112_ENST00000287534.4_Missense_Mutation_p.L72I	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	135					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CAAATTAGAACTCTTCCTGAA	0.433000													31	16					1.32181e-22	2.52583e-22	1	1	0
BOD1L1	259282	broad.mit.edu	37	4	13605472	13605472	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr4:13605472C>A	ENST00000040738.5	-	10	3187	c.3052G>T	c.(3052-3054)Gat>Tat	p.D1018Y		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1018	Lys-rich.						DNA binding										TTGTGGCCATCTGACAACTTT	0.378000													8	57					0.00307968	0.00331849	1	1	0
HRNR	388697	broad.mit.edu	37	1	152192733	152192733	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:152192733C>A	ENST00000368801.2	-	3	1447	c.1372G>T	c.(1372-1374)Ggt>Tgt	p.G458C	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	458					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)			TAGCCTGAACCAGACACATAT	0.592000													345	222					3.33861e-135	6.98694e-135	1	1	0
COL4A2	1284	broad.mit.edu	37	13	111132573	111132573	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr13:111132573C>A	ENST00000360467.5	+	31	2900	c.2594C>A	c.(2593-2595)cCt>cAt	p.P865H		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	865	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			ACAGGTCTGCCTGGTGATAGA	0.532000													25	81					1.64293e-13	2.7493e-13	1	1	0
PCDH10	57575	broad.mit.edu	37	4	134072758	134072758	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr4:134072758C>A	ENST00000264360.4	+	1	2289	c.1463C>A	c.(1462-1464)aCc>aAc	p.T488N		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	488	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GTGAGCGCCACCGACCGGGAT	0.587000													37	111					5.8336e-16	1.02353e-15	1	1	0
PCDHA3	56145	broad.mit.edu	37	5	140182210	140182210	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:140182210G>T	ENST00000522353.2	+	1	1428	c.1428G>T	c.(1426-1428)acG>acT	p.T476T	PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.T476T	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACATCTTCACGGTGTCTGCGC	0.667000													47	173					4.14194e-30	8.26959e-30	1	1	0
SPOCD1	90853	broad.mit.edu	37	1	32258000	32258000	+	Silent	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:32258000G>A	ENST00000360482.2	-	15	2907	c.2778C>T	c.(2776-2778)gaC>gaT	p.D926D	SPOCD1_ENST00000533231.1_Silent_p.D926D|SPOCD1_ENST00000257100.3_Silent_p.D419D|SPOCD1_ENST00000373648.2_3'UTR	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	926	SPOC.				transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CCACGCAGACGTCCTGCGGTG	0.632000													10	28					0	0	1	0	0
ASIC2	40	broad.mit.edu	37	17	31618819	31618819	+	Silent	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:31618819C>T	ENST00000225823.2	-	1	1187	c.315G>A	c.(313-315)tcG>tcA	p.S105S	ASIC2_ENST00000359872.6_Intron	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	61					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	GCAAGCGGTTCGAGGACCAGG	0.667000													25	48					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96583768	96583768	+	Silent	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:96583768G>A	ENST00000456556.1	-	35	2352	c.2268C>T	c.(2266-2268)gcC>gcT	p.A756A	ANKRD36C_ENST00000419039.2_5'UTR|ANKRD36C_ENST00000295246.5_5'UTR|ANKRD36C_ENST00000420871.2_5'UTR					ankyrin repeat domain 36C											breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTACCTTCAAGGCTGGTTGTT	0.303000													3	12					0	0	1	0	0
KCNK17	89822	broad.mit.edu	37	6	39271739	39271739	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:39271739C>A	ENST00000453413.2	-	4	822	c.682G>T	c.(682-684)Gtg>Ttg	p.V228L	KCNK17_ENST00000373231.4_Missense_Mutation_p.V228L	NM_001135111.1	NP_001128583.1	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	228						integral to membrane	potassium channel activity|voltage-gated ion channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						TCACCAATCACGTAGTCGCCG	0.622000													9	139					1.12685e-05	1.38035e-05	1	1	0
UNC79	57578	broad.mit.edu	37	14	94069700	94069700	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr14:94069700C>A	ENST00000553484.1	+	26	3844	c.3690C>A	c.(3688-3690)agC>agA	p.S1230R	UNC79_ENST00000393151.2_Missense_Mutation_p.S1230R|UNC79_ENST00000256339.4_Missense_Mutation_p.S1053R|UNC79_ENST00000555664.1_Missense_Mutation_p.S1230R			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1230						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TGAGGGACAGCGTGAAAGGGC	0.512000													14	65					9.05144e-12	1.4464e-11	1	1	0
COL18A1	80781	broad.mit.edu	37	21	46925787	46925787	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr21:46925787C>A	ENST00000359759.4	+	36	4389	c.4368C>A	c.(4366-4368)ggC>ggA	p.G1456G	COL18A1_ENST00000400337.2_Silent_p.G1041G|COL18A1_ENST00000355480.5_Silent_p.G1221G|SLC19A1_ENST00000567670.1_Intron			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1456	Nonhelical region 11 (NC11).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CCATGCTGGGCCAGGTGCACG	0.682000													18	41					7.07596e-05	8.3555e-05	1	1	0
PCDHGB7	56099	broad.mit.edu	37	5	140798055	140798055	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:140798055T>A	ENST00000398594.2	+	1	629	c.629T>A	c.(628-630)tTg>tAg	p.L210*	PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCACCACTTGGTACTGACC	0.498000													21	68					0	0	1	0	0
SNTG1	54212	broad.mit.edu	37	8	51569544	51569544	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:51569544G>T	ENST00000522124.1	+	14	1586	c.925G>T	c.(925-927)Gcc>Tcc	p.A309S	SNTG1_ENST00000518864.1_Missense_Mutation_p.A309S|SNTG1_ENST00000276467.5_Missense_Mutation_p.A309S|SNTG1_ENST00000517473.1_Missense_Mutation_p.A309S	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	309	PH.				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)				GACCTTCCTGGCCCTGAGGGG	0.483000													20	73					1.96292e-10	3.01467e-10	1	1	0
GPR133	283383	broad.mit.edu	37	12	131602946	131602946	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:131602946C>A	ENST00000261654.5	+	19	2617	c.2058C>A	c.(2056-2058)atC>atA	p.I686I	GPR133_ENST00000535015.1_Silent_p.I718I|GPR133_ENST00000376682.4_Silent_p.I372I|GPR133_ENST00000543617.1_Silent_p.I205I	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	686					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CTCTTCTGATCTGCATCATTT	0.493000													12	78					6.40141e-05	7.56927e-05	1	1	0
FLNC	2318	broad.mit.edu	37	7	128497285	128497285	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:128497285C>A	ENST00000325888.8	+	46	7936	c.7675C>A	c.(7675-7677)Cat>Aat	p.H2559N	FLNC_ENST00000346177.6_Missense_Mutation_p.H2526N|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2559	Interaction with INPPL1.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCCTGAGGGCCATGTGGTCAC	0.602000													31	165					1.55811e-20	2.91328e-20	1	1	0
POTEG	404785	broad.mit.edu	37	14	19553804	19553804	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr14:19553804G>A	ENST00000409832.3	+	1	440	c.388G>A	c.(388-390)Gag>Aag	p.E130K		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	130								p.E130*(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CGCTTTCATGGAGCCGAGGTA	0.592000													59	843					0	0	1	0	0
SYCE1	93426	broad.mit.edu	37	10	135372442	135372442	+	Silent	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:135372442G>A	ENST00000368517.3	-	4	240	c.102C>T	c.(100-102)gcC>gcT	p.A34A	SYCE1_ENST00000343131.5_Silent_p.A70A|SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000432597.2_Silent_p.A34A	NM_130784.2	NP_570140.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	70					cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GGTCTTTATTGGCTTTCTTTT	0.502000													4	29					0	0	1	0	0
KCTD8	386617	broad.mit.edu	37	4	44449912	44449912	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr4:44449912G>T	ENST00000360029.3	-	1	912	c.629C>A	c.(628-630)aCg>aAg	p.T210K		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	210						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						GTAGCCCAGCGTGAGGAAGCC	0.761000										HNSCC(17;0.042)			4	10					0.00024832	0.000283026	1	1	0
ZNF12	7559	broad.mit.edu	37	7	6730660	6730660	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:6730660C>A	ENST00000405858.1	-	5	2454	c.1913G>T	c.(1912-1914)tGt>tTt	p.C638F	AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000404360.1_Missense_Mutation_p.C564F|ZNF12_ENST00000342651.5_Missense_Mutation_p.C600F	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	638					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		GGCTTTTCCACACTCATTACA	0.388000													4	22					0.00116845	0.00128212	1	1	0
ZNF33A	7581	broad.mit.edu	37	10	38344520	38344520	+	Missense_Mutation	SNP	A	A	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:38344520A>C	ENST00000374618.3	+	5	1646	c.1468A>C	c.(1468-1470)Att>Ctt	p.I490L	ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000432900.2_Missense_Mutation_p.I496L|ZNF33A_ENST00000458705.2_Missense_Mutation_p.I489L|ZNF33A_ENST00000307441.9_Missense_Mutation_p.I489L	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	489						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						GCATCAGAGAATTCACATAGG	0.378000													4	36					0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73765654	73765654	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:73765654C>A	ENST00000334126.7	-	26	5379	c.5153G>T	c.(5152-5154)gGa>gTa	p.G1718V	C2CD3_ENST00000313663.7_Missense_Mutation_p.G1718V			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1718	C2 2.					centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GTTCATACCTCCTTTATGCCA	0.323000													8	30					0.000274275	0.000310774	1	1	0
ST6GALNAC1	55808	broad.mit.edu	37	17	74621582	74621582	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:74621582C>A	ENST00000156626.7	-	9	1832	c.1633G>T	c.(1633-1635)Ggc>Tgc	p.G545C		NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	545					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						CGCTCATGGCCCTCAGTGATG	0.478000													25	45					2.21704e-12	3.59906e-12	1	1	0
NUTM2G	441457	broad.mit.edu	37	9	99694022	99694022	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:99694022C>A	ENST00000354649.3	+	2	750	c.35C>A	c.(34-36)cCc>cAc	p.P12H	HIATL2_ENST00000506067.1_Intron|NUTM2G_ENST00000372322.3_Missense_Mutation_p.P12H	NM_001045477.2	NP_001038942.1			NUT family member 2G																		GTGCTGGGACCCGGCGTGACC	0.617000													16	21					1.33834e-09	1.99544e-09	1	1	0
OR10J3	441911	broad.mit.edu	37	1	159283779	159283779	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:159283779G>T	ENST00000332217.5	-	1	670	c.671C>A	c.(670-672)tCc>tAc	p.S224Y		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					AAGAATGGTGGAGATGATGAG	0.498000													16	93					0.000308642	0.000348577	1	1	0
CFH	3075	broad.mit.edu	37	1	196659263	196659263	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:196659263A>T	ENST00000367429.4	+	9	1470	c.1230A>T	c.(1228-1230)aaA>aaT	p.K410N	CFH_ENST00000439155.2_Missense_Mutation_p.K410N|CFH_ENST00000359637.2_Missense_Mutation_p.K346N	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	410	Sushi 7.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TACAGGGTAAATCTATAGACG	0.388000													5	21					0	0	1	0	0
AP1M2	10053	broad.mit.edu	37	19	10694626	10694626	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:10694626C>A	ENST00000590923.1	-	2	246	c.163G>T	c.(163-165)Gtc>Ttc	p.V55F	AP1M2_ENST00000250244.6_Missense_Mutation_p.V55F			Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	55					cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			AGGAAGTGGACCTGGCCGTGG	0.617000													6	6					0.00116845	0.00128212	1	1	0
SMG1	23049	broad.mit.edu	37	16	18861343	18861343	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr16:18861343C>A	ENST00000446231.2	-	35	5801	c.5389G>T	c.(5389-5391)Gtg>Ttg	p.V1797L	SMG1_ENST00000389467.3_Missense_Mutation_p.V1797L			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1797	FAT.|Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						GCATGCTTCACGAGCAACCGC	0.512000													8	19					3.09899e-07	4.1471e-07	1	1	0
C1QA	712	broad.mit.edu	37	1	22965637	22965637	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:22965637T>C	ENST00000374642.3	+	3	679	c.475T>C	c.(475-477)Tac>Cac	p.Y159H	C1QA_ENST00000402322.1_Missense_Mutation_p.Y159H	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	159	C1q.				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ACCCGGCTACTACTACTTCAC	0.587000													19	73					0	0	1	0	0
OR4D11	219986	broad.mit.edu	37	11	59271360	59271360	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:59271360C>A	ENST00000313253.1	+	1	312	c.312C>A	c.(310-312)ttC>ttA	p.F104L		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						TATTTCTCTTCCACCTCCTTG	0.468000													59	124					8.44121e-28	1.6757e-27	1	1	0
DYSF	8291	broad.mit.edu	37	2	71828641	71828641	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:71828641C>A	ENST00000258104.3	+	35	4133	c.3856C>A	c.(3856-3858)Cat>Aat	p.H1286N	DYSF_ENST00000409582.3_Missense_Mutation_p.H1303N|DYSF_ENST00000410020.3_Missense_Mutation_p.H1304N|DYSF_ENST00000409744.1_Missense_Mutation_p.H1273N|DYSF_ENST00000410041.1_Missense_Mutation_p.H1304N|DYSF_ENST00000409366.1_Missense_Mutation_p.H1287N|DYSF_ENST00000409651.1_Missense_Mutation_p.H1318N|DYSF_ENST00000394120.2_Missense_Mutation_p.H1287N|DYSF_ENST00000409762.1_Missense_Mutation_p.H1303N|DYSF_ENST00000429174.2_Missense_Mutation_p.H1286N|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000413539.2_Missense_Mutation_p.H1317N	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1286						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GGCCATCCACCATATTCCTGG	0.502000													24	22					9.57634e-11	1.49319e-10	1	1	0
ZNF804B	219578	broad.mit.edu	37	7	88847532	88847532	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:88847532G>T	ENST00000333190.4	+	2	781	c.172G>T	c.(172-174)Gaa>Taa	p.E58*		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	58						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CTTTTACTGTGAATTATGTGA	0.368000										HNSCC(36;0.09)			11	16					1.58986e-06	2.0517e-06	1	1	0
RAB11FIP2	22841	broad.mit.edu	37	10	119798612	119798612	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:119798612C>A	ENST00000355624.3	-	3	1575	c.1136G>T	c.(1135-1137)gGa>gTa	p.G379V	RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.G379V|RP11-354M20.3_ENST00000451610.2_RNA	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	379					protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		GCTATCAGATCCCCCATTGTT	0.353000													13	35					2.27111e-07	3.0652e-07	1	1	0
CDH23	64072	broad.mit.edu	37	10	73406356	73406356	+	Silent	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:73406356C>T	ENST00000224721.6	+	13	1451	c.1446C>T	c.(1444-1446)acC>acT	p.T482T	CDH23_ENST00000299366.7_Silent_p.T522T|CDH23_ENST00000461841.3_Silent_p.T522T|CDH23_ENST00000398842.3_Silent_p.T477T|CDH23_ENST00000398809.4_Silent_p.T477T	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	477	Cadherin 5.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCGTGGGGACCTCTGTGCTGA	0.572000													40	173					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70946747	70946747	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:70946747A>T	ENST00000334414.6	-	21	5241	c.5197T>A	c.(5197-5199)Tac>Aac	p.Y1733N	PTPRB_ENST00000538708.1_Missense_Mutation_p.Y1425N|PTPRB_ENST00000550358.1_Missense_Mutation_p.Y1645N|PTPRB_ENST00000451516.2_Missense_Mutation_p.Y1425N|PTPRB_ENST00000550857.1_Missense_Mutation_p.Y1425N|PTPRB_ENST00000261266.5_Missense_Mutation_p.Y1515N	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1515	Tyrosine-protein phosphatase.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TTGTGCCTGTACTCCAGGTAG	0.468000													34	77					0	0	1	0	0
GZMB	3002	broad.mit.edu	37	14	25101304	25101304	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr14:25101304C>A	ENST00000526004.1	-	3	259	c.224G>T	c.(223-225)gGa>gTa	p.G75V	RP11-104E19.1_ENST00000557736.1_RNA|GZMB_ENST00000382540.1_Silent_p.R75R|GZMB_ENST00000382542.1_Silent_p.R154R|RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000415355.3_Silent_p.R108R|GZMB_ENST00000216341.4_Silent_p.R120R			P10144	GRAB_HUMAN	granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)	205	Peptidase S1.				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		CAGCTCTGGTCCGCTTGGCCT	0.632000													21	70					1.50039e-11	2.37357e-11	1	1	0
NLRP3	114548	broad.mit.edu	37	1	247611746	247611746	+	Silent	SNP	G	G	T	rs139995782		TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:247611746G>T	ENST00000366497.2	+	9	3660	c.2880G>T	c.(2878-2880)gcG>gcT	p.A960A	NLRP3_ENST00000391828.3_Silent_p.A1017A|NLRP3_ENST00000348069.2_Silent_p.A903A|NLRP3_ENST00000391827.2_Silent_p.A960A|NLRP3_ENST00000336119.3_Silent_p.A1017A|NLRP3_ENST00000366496.2_Silent_p.A960A	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	1017					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CAAAAAGTGCGTTAGAAACAC	0.453000													16	36					3.52763e-06	4.44666e-06	1	1	0
OAS1	4938	broad.mit.edu	37	12	113357269	113357269	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:113357269G>A	ENST00000202917.5	+	6	1377	c.1114G>A	c.(1114-1116)Gag>Aag	p.E372K	RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000445409.2_Intron|OAS1_ENST00000551241.1_Intron	NM_016816.2	NP_058132.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	372					interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						TGGAACACATGAGTACCCTCA	0.517000													46	63					0	0	1	0	0
NCAPG2	54892	broad.mit.edu	37	7	158455056	158455056	+	Silent	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:158455056G>A	ENST00000409339.3	-	16	1932	c.1819C>T	c.(1819-1821)Ctg>Ttg	p.L607L	NCAPG2_ENST00000449727.2_Silent_p.L607L|NCAPG2_ENST00000541468.1_Silent_p.L108L|NCAPG2_ENST00000275830.10_Silent_p.L399L|NCAPG2_ENST00000409423.1_Silent_p.L607L|NCAPG2_ENST00000356309.3_Silent_p.L607L			Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	607					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		GTTTTGTCCAGAACCTAAGAT	0.328000													3	11					0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	180063553	180063553	+	Silent	SNP	A	A	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:180063553A>G	ENST00000367607.3	+	34	8731	c.8313A>G	c.(8311-8313)caA>caG	p.Q2771Q	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2771						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						ATCAACTACAACAAATCAAAA	0.363000													7	8					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26689043	26689043	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr22:26689043G>A	ENST00000529632.2	+	2	962	c.766G>A	c.(766-768)Gag>Aag	p.E256K	SEZ6L_ENST00000360929.3_Missense_Mutation_p.E256K|SEZ6L_ENST00000404234.3_Missense_Mutation_p.E256K|SEZ6L_ENST00000248933.6_Missense_Mutation_p.E256K|SEZ6L_ENST00000343706.4_Missense_Mutation_p.E256K|SEZ6L_ENST00000403121.1_Missense_Mutation_p.E29K|SEZ6L_ENST00000402979.1_Missense_Mutation_p.E29K	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	256						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GTCAGCCTCAGAGGAGAGCCA	0.622000													10	17					0	0	1	0	0
NRG3	10718	broad.mit.edu	37	10	84118543	84118543	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:84118543G>T	ENST00000372142.2	+	3	483	c.209G>T	c.(208-210)cGa>cTa	p.R70L	NRG3_ENST00000372141.2_Missense_Mutation_p.R291L|NRG3_ENST00000556918.1_Missense_Mutation_p.R121L|NRG3_ENST00000404576.2_Missense_Mutation_p.R95L|NRG3_ENST00000404547.1_Missense_Mutation_p.R291L	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	291					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)		AAACCCTGCCGAGACAAGGAC	0.522000													45	55					6.5261e-18	1.18205e-17	1	1	0
POLR3E	55718	broad.mit.edu	37	16	22337459	22337459	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr16:22337459C>T	ENST00000299853.5	+	18	1893	c.1726C>T	c.(1726-1728)Ctc>Ttc	p.L576F	POLR3E_ENST00000564209.1_Missense_Mutation_p.L576F|POLR3E_ENST00000418581.2_Missense_Mutation_p.L540F|POLR3E_ENST00000359210.4_Missense_Mutation_p.L576F	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	576					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		ACAGTTTGTGCTCACGCTGAG	0.632000													20	27					0	0	1	0	0
PCM1	5108	broad.mit.edu	37	8	17813035	17813035	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:17813035G>T	ENST00000325083.8	+	10	1784	c.1345G>T	c.(1345-1347)Ggc>Tgc	p.G449C	PCM1_ENST00000518537.1_Missense_Mutation_p.G488C|PCM1_ENST00000524226.1_Missense_Mutation_p.G449C|PCM1_ENST00000519253.1_Missense_Mutation_p.G449C	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN	pericentriolar material 1	449					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		TGCTTCTGTAGGCTTGGCACC	0.433000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""								5	4					0.000602214	0.000671403	1	1	0
DOCK2	1794	broad.mit.edu	37	5	169116266	169116266	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:169116266C>A	ENST00000256935.8	+	9	852	c.772C>A	c.(772-774)Cta>Ata	p.L258I		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	258					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGAGAACTACCTAGTGCGATG	0.517000													11	38					1.58986e-06	2.0517e-06	1	1	0
ZNF677	342926	broad.mit.edu	37	19	53740319	53740319	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:53740319T>C	ENST00000333952.4	-	5	1826	c.1661A>G	c.(1660-1662)cAa>cGa	p.Q554R	ZNF677_ENST00000598513.1_Missense_Mutation_p.Q554R			Q86XU0	ZN677_HUMAN	zinc finger protein 677	554					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		GTTTGAACTTTGGAATAAAGC	0.303000													3	6					0	0	1	0	0
OAS3	4940	broad.mit.edu	37	12	113386754	113386754	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:113386754A>T	ENST00000228928.7	+	6	1297	c.1118A>T	c.(1117-1119)aAt>aTt	p.N373I	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	373	Linker.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						AAGAGCCTCAATGCTGTGTAC	0.607000													5	32					0	0	1	0	0
E2F2	1870	broad.mit.edu	37	1	23842999	23842999	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:23842999G>T	ENST00000361729.2	-	6	1299	c.873C>A	c.(871-873)ctC>ctA	p.L291L	E2F2_ENST00000487237.1_5'UTR	NM_004091.3	NP_004082.1	Q14209	E2F2_HUMAN	E2F transcription factor 2	291					G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		GGGTGCTCTTGAGATATATCT	0.577000													6	23					0.00116845	0.00128212	1	1	0
AFF3	3899	broad.mit.edu	37	2	100210251	100210251	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:100210251G>T	ENST00000317233.4	-	14	2107	c.1872C>A	c.(1870-1872)ccC>ccA	p.P624P	AFF3_ENST00000356421.2_Silent_p.P649P|AFF3_ENST00000409579.1_Silent_p.P649P|AFF3_ENST00000409236.1_Silent_p.P624P	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	624					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TGGTTTTGGTGGGCTCCGGGG	0.731000													20	45					3.51602e-12	5.68123e-12	1	1	0
VCAN	1462	broad.mit.edu	37	5	82837154	82837154	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:82837154C>A	ENST00000265077.3	+	8	8897	c.8332C>A	c.(8332-8334)Ccc>Acc	p.P2778T	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.P1791T|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2778	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AGACCATACTCCCTATCTAAG	0.443000													9	41					2.17888e-05	2.63559e-05	1	1	0
ELMO2	63916	broad.mit.edu	37	20	45002146	45002146	+	Silent	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr20:45002146C>T	ENST00000372176.1	-	16	1512	c.1044G>A	c.(1042-1044)ccG>ccA	p.P348P	ELMO2_ENST00000445496.2_Silent_p.P253P|ELMO2_ENST00000396391.1_Silent_p.P436P|ELMO2_ENST00000352077.2_Silent_p.P434P|ELMO2_ENST00000439931.2_Silent_p.P448P|ELMO2_ENST00000454865.2_Silent_p.P168P|ELMO2_ENST00000290246.6_Silent_p.P436P			Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	436	ELMO.				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				TAAAGAACATCGGGTGGTAGT	0.502000													8	50					0	0	1	0	0
NRG3	10718	broad.mit.edu	37	10	84118544	84118544	+	Silent	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:84118544A>T	ENST00000372142.2	+	3	484	c.210A>T	c.(208-210)cgA>cgT	p.R70R	NRG3_ENST00000372141.2_Silent_p.R291R|NRG3_ENST00000556918.1_Silent_p.R121R|NRG3_ENST00000404576.2_Silent_p.R95R|NRG3_ENST00000404547.1_Silent_p.R291R	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	291					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)		AACCCTGCCGAGACAAGGACC	0.527000													45	55					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139609199	139609199	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:139609199G>T	ENST00000303045.6	-	62	4826	c.4380C>A	c.(4378-4380)tcC>tcA	p.S1460S	COL22A1_ENST00000435777.1_Silent_p.S1440S|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1460	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGGTTTCCATGGATGGAGACT	0.522000										HNSCC(7;0.00092)			17	123					1.99824e-07	2.70955e-07	1	1	0
CMTR2	55783	broad.mit.edu	37	16	71318899	71318899	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr16:71318899C>A	ENST00000338099.5	-	3	1261	c.925G>T	c.(925-927)Gga>Tga	p.G309*	FTSJD1_ENST00000434935.2_Nonsense_Mutation_p.G309*			Q8IYT2	FTSJ1_HUMAN		309						integral to membrane	methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCGGAGTTTCCTGCCTTGCTA	0.408000													20	6					8.34094e-07	1.0877e-06	1	1	0
RELA	5970	broad.mit.edu	37	11	65423362	65423362	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:65423362T>C	ENST00000525693.1	-	9	984	c.922A>G	c.(922-924)Acc>Gcc	p.T308A	RELA_ENST00000406246.3_Missense_Mutation_p.T308A|RELA_ENST00000308639.9_Missense_Mutation_p.T305A			Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	308					anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						CTCTTGAAGGTCTCATATGTC	0.572000													27	114					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7583078	7583078	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:7583078G>T	ENST00000379802.3	+	24	5924	c.5583G>T	c.(5581-5583)caG>caT	p.Q1861H	DSP_ENST00000418664.2_Missense_Mutation_p.Q1262H	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1861	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			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)		AGCAAATTCAGAATGACCTGA	0.473000													12	66					3.07112e-06	3.87684e-06	1	1	0
SGSM1	129049	broad.mit.edu	37	22	25313688	25313688	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr22:25313688T>A	ENST00000400358.4	+	23	3049	c.2992T>A	c.(2992-2994)Tgc>Agc	p.C998S	SGSM1_ENST00000400359.4_Missense_Mutation_p.C1053S	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	1053	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CTTCTACTTCTGCTACCGCTG	0.498000													4	18					0	0	1	0	0
VPS8	23355	broad.mit.edu	37	3	184700362	184700362	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:184700362G>C	ENST00000287546.4	+	40	3600	c.3429G>C	c.(3427-3429)tgG>tgC	p.W1143C	VPS8_ENST00000446204.2_Missense_Mutation_p.W1051C|VPS8_ENST00000436792.2_Missense_Mutation_p.W1141C|VPS8_ENST00000437079.3_Missense_Mutation_p.W1143C	NM_015303.3	NP_056118.2	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	1143							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			AGGCACTTTGGTTTCCGTTAT	0.378000													7	4					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150337289	150337289	+	Silent	SNP	G	G	T	rs72696841	by1000genomes	TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:150337289G>T	ENST00000401000.4	+	1	164	c.99G>T	c.(97-99)tcG>tcT	p.S33S	RPRD2_ENST00000369067.3_Silent_p.S33S|RPRD2_ENST00000539519.1_Silent_p.S33S|RPRD2_ENST00000369068.4_Silent_p.S33S|RPRD2_ENST00000492220.1_Intron			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	33	CID.						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						AATTCCAGTCGGTAACCAACA	0.552000													4	49					1.23904e-05	1.51032e-05	1	1	0
CAPN6	827	broad.mit.edu	37	X	110490684	110490684	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chrX:110490684G>C	ENST00000324068.1	-	12	1822	c.1655C>G	c.(1654-1656)tCt>tGt	p.S552C	CAPN6_ENST00000541758.1_Missense_Mutation_p.S297C	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	552	C2.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						CTGGACAGGAGAACGGACTTC	0.393000													15	11					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3228499	3228499	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chrX:3228499G>T	ENST00000217939.6	-	7	7899	c.7745C>A	c.(7744-7746)aCc>aAc	p.T2582N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2582	Ig-like C2-type 10.					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)				CTGCAGATCGGTGCCATTGGG	0.647000													13	7					6.31663e-08	8.74261e-08	1	1	0
PALD1	27143	broad.mit.edu	37	10	72289780	72289780	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:72289780G>T	ENST00000263563.6	+	4	692	c.424G>T	c.(424-426)Ggg>Tgg	p.G142W		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		CAGCCTCTCAGGGTTCAGGCG	0.632000													23	45					2.44723e-14	4.15934e-14	1	1	0
KIF4B	285643	broad.mit.edu	37	5	154395564	154395564	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:154395564G>T	ENST00000435029.4	+	1	2305	c.2145G>T	c.(2143-2145)aaG>aaT	p.K715N		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	715	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)			AGCGACTCAAGGATGCTCTCC	0.483000													9	35					3.09899e-07	4.1471e-07	1	1	0
GLI2	2736	broad.mit.edu	37	2	121747436	121747436	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:121747436C>G	ENST00000452319.1	+	14	4006	c.3946C>G	c.(3946-3948)Cac>Gac	p.H1316D	GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Missense_Mutation_p.H1316D			P10070	GLI2_HUMAN	GLI family zinc finger 2	1316					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GCCACCACCTCACCCAGTCCA	0.657000													4	39					0	0	1	0	0
ANXA3	306	broad.mit.edu	37	4	79507466	79507466	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr4:79507466G>T	ENST00000264908.6	+	6	744	c.365G>T	c.(364-366)aGc>aTc	p.S122I	ANXA3_ENST00000503570.2_Missense_Mutation_p.S83I|ANXA3_ENST00000512884.1_Missense_Mutation_p.S83I	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	122					defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						ACCAGGACAAGCAGGCAAATG	0.363000													5	7					5.9392e-07	7.8691e-07	1	1	0
ACSM5	54988	broad.mit.edu	37	16	20441105	20441105	+	Silent	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr16:20441105C>G	ENST00000331849.4	+	8	1254	c.1107C>G	c.(1105-1107)ggC>ggG	p.G369G		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	369					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TGTACGAAGGCTATGGCCAGT	0.617000													19	75					0	0	1	0	0
ELAVL3	1995	broad.mit.edu	37	19	11565617	11565617	+	Silent	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:11565617C>T	ENST00000359227.3	-	7	1252	c.828G>A	c.(826-828)tcG>tcA	p.S276S	ELAVL3_ENST00000438662.2_Silent_p.S269S	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	276					cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						ccgcgccccccgACAGGCCCA	0.682000													104	127					0	0	1	0	0
KAZN	23254	broad.mit.edu	37	1	15430524	15430524	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:15430524C>A	ENST00000376030.2	+	13	2181	c.1887C>A	c.(1885-1887)taC>taA	p.Y629*		NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	629	SAM 3.				keratinization	cornified envelope|cytoplasm|desmosome|nucleus				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						CCCAGGAGTACGCAGACAACC	0.647000													10	13					7.48243e-07	9.81645e-07	1	1	0
ZNF678	339500	broad.mit.edu	37	1	227842658	227842658	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:227842658C>T	ENST00000343776.4	+	4	1052	c.707C>T	c.(706-708)cCc>cTc	p.P236L	ZNF678_ENST00000397097.3_Missense_Mutation_p.P291L|ZNF678_ENST00000498759.1_Intron			F5GXA7	F5GXA7_HUMAN	zinc finger protein 678	291					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				GGAGAGAAACCCTACAAATGC	0.383000													8	30					0	0	1	0	0
PACSIN1	29993	broad.mit.edu	37	6	34499494	34499494	+	Silent	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:34499494C>T	ENST00000538621.1	+	9	1400	c.1155C>T	c.(1153-1155)tcC>tcT	p.S385S	PACSIN1_ENST00000244458.2_Silent_p.S385S|PACSIN1_ENST00000374043.2_Silent_p.S343S	NM_001199583.1	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	385	SH3.				endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						AGGACGACTCCAAGGGAGTGC	0.662000													47	239					0	0	1	0	0
OR5H15	403274	broad.mit.edu	37	3	97887929	97887929	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:97887929C>A	ENST00000356526.2	+	1	386	c.386C>A	c.(385-387)cCt>cAt	p.P129H		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						ATATGCAAACCTTTACTTTAT	0.373000													8	37					5.18039e-06	6.50169e-06	1	1	0
GPR124	25960	broad.mit.edu	37	8	37686463	37686463	+	Silent	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:37686463G>A	ENST00000315215.7	+	3	759	c.396G>A	c.(394-396)ggG>ggA	p.G132G	GPR124_ENST00000412232.2_Silent_p.G132G			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	132					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G125G(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TGGGCCTGGGGGAGCTGAAGC	0.667000													7	26					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113649231	113649231	+	Missense_Mutation	SNP	T	T	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:113649231T>G	ENST00000297405.5	-	22	3774	c.3530A>C	c.(3529-3531)tAt>tCt	p.Y1177S	CSMD3_ENST00000343508.3_Missense_Mutation_p.Y1137S|CSMD3_ENST00000352409.3_Missense_Mutation_p.Y1177S|CSMD3_ENST00000455883.2_Missense_Mutation_p.Y1073S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1177	CUB 6.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTCAAGGTTATATTCTGTAAA	0.398000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			14	70					0	0	1	0	0
PPY2P	23614	broad.mit.edu	37	17	26574520	26574520	+	RNA	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:26574520G>T	ENST00000579045.1	-	0	512				PPY2_ENST00000583761.1_RNA																							CCACCTGTGTGGCTCTGTTGC	0.642000													4	9					0.00909568	0.00962192	1	1	0
SLITRK3	22865	broad.mit.edu	37	3	164906975	164906975	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:164906975C>A	ENST00000475390.1	-	2	2087	c.1644G>T	c.(1642-1644)ctG>ctT	p.L548L	SLITRK3_ENST00000241274.3_Silent_p.L548L			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	548						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TCAAGTGTTCCAGGACACCAG	0.527000										HNSCC(40;0.11)			14	83					9.31168e-06	1.1512e-05	1	1	0
MAP3K3	4215	broad.mit.edu	37	17	61771008	61771008	+	Silent	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:61771008C>T	ENST00000361357.3	+	17	2163	c.1845C>T	c.(1843-1845)acC>acT	p.T615T	MAP3K3_ENST00000579585.1_Silent_p.T615T|MAP3K3_ENST00000584573.1_Silent_p.T611T|MAP3K3_ENST00000577395.1_Silent_p.T580T|MAP3K3_ENST00000361733.3_Silent_p.T584T	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	584	Protein kinase.				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						CCCAGCCCACCAATCCTCAGC	0.587000													11	130					0	0	1	0	0
C1orf65	164127	broad.mit.edu	37	1	223566956	223566956	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:223566956G>T	ENST00000366875.3	+	1	242	c.139G>T	c.(139-141)Ggg>Tgg	p.G47W		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	47										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		CTCCCGGGCCGGGACTCCGGG	0.736000													4	10					0.00024832	0.000283026	1	1	0
PAPPA	5069	broad.mit.edu	37	9	119097224	119097224	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:119097224C>A	ENST00000328252.3	+	13	3851	c.3482C>A	c.(3481-3483)gCg>gAg	p.A1161E	PAPPA_ENST00000534838.1_Missense_Mutation_p.A199E	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1161					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CACAGCCAGGCGGTACGTGTG	0.612000													25	95					2.21704e-12	3.59906e-12	1	1	0
IL4R	3566	broad.mit.edu	37	16	27363913	27363913	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr16:27363913G>A	ENST00000395762.2	+	7	825	c.566G>A	c.(565-567)aGc>aAc	p.S189N	IL4R_ENST00000170630.2_Missense_Mutation_p.S189N|IL4R_ENST00000380922.3_Missense_Mutation_p.S174N|IL4R_ENST00000543915.2_Missense_Mutation_p.S189N|IL4R_ENST00000449195.1_Missense_Mutation_p.S189N	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	189	Fibronectin type-III.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						ATCGCAGCCAGCACCCTGAAG	0.597000													31	149					0	0	1	0	0
ACKR4	51554	broad.mit.edu	37	3	132319807	132319807	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:132319807C>A	ENST00000249887.2	+	2	662	c.566C>A	c.(565-567)cCc>cAc	p.P189H	ACAD11_ENST00000545291.1_Intron|ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000264990.6_Intron	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1			atypical chemokine receptor 4																		CCCATTTTCCCCCGCTACCTA	0.423000													11	13					0.0202918	0.021233	1	1	0
GPR149	344758	broad.mit.edu	37	3	154146526	154146526	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:154146526C>A	ENST00000389740.2	-	1	978	c.879G>T	c.(877-879)cgG>cgT	p.R293R		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	293						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AGAGAGTCCCCCGGTTCTCAC	0.642000													97	112					1.46924e-35	2.97791e-35	1	1	0
KL	9365	broad.mit.edu	37	13	33638186	33638186	+	Missense_Mutation	SNP	A	A	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr13:33638186A>C	ENST00000380099.3	+	5	2910	c.2902A>C	c.(2902-2904)Acc>Ccc	p.T968P	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	968					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)		AGAAGAATTCACCGTGTGTAC	0.393000													6	29					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63269055	63269055	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr14:63269055G>C	ENST00000322893.7	-	9	2082	c.1814C>G	c.(1813-1815)gCt>gGt	p.A605G	KCNH5_ENST00000394968.1_Missense_Mutation_p.A547G|KCNH5_ENST00000420622.2_Missense_Mutation_p.A605G	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	605					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACCTAAAATAGCCACCACCTC	0.423000													13	85					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152532664	152532664	+	Silent	SNP	C	C	A	rs148240825	byFrequency	TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:152532664C>A	ENST00000367255.5	-	124	23155	c.22554G>T	c.(22552-22554)ggG>ggT	p.G7518G	SYNE1_ENST00000341594.5_Silent_p.G7130G|SYNE1_ENST00000356820.4_Silent_p.G2042G|SYNE1_ENST00000423061.1_Silent_p.G7447G|SYNE1_ENST00000265368.4_Silent_p.G7518G|SYNE1_ENST00000448038.1_Silent_p.G7447G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7518					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GAAGACGTTGCCCATCAATAA	0.323000										HNSCC(10;0.0054)			4	10					0.150653	0.153301	1	1	0
ZFYVE28	57732	broad.mit.edu	37	4	2307103	2307103	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr4:2307103C>G	ENST00000290974.2	-	8	1303	c.964G>C	c.(964-966)Gct>Cct	p.A322P	RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.A252P|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.A292P	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	322					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						TTGGCCTTAGCTGAGAGTGGC	0.677000													29	47					0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128994404	128994404	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:128994404G>A	ENST00000274487.4	+	15	2526	c.2381G>A	c.(2380-2382)gGg>gAg	p.G794E	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	794	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)		ATCATTAAAGGGGATTTTAAT	0.338000													9	21					0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20625863	20625863	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:20625863G>T	ENST00000525748.1	+	3	845	c.572G>T	c.(571-573)cGa>cTa	p.R191L		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	191					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	AATAAGGCCCGAGGGAACTGG	0.592000													23	82					3.8784e-16	6.82552e-16	1	1	0
TMEM151A	256472	broad.mit.edu	37	11	66062166	66062166	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:66062166G>T	ENST00000327259.4	+	2	593	c.449G>T	c.(448-450)tGg>tTg	p.W150L		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	150						integral to membrane				central_nervous_system(1)|kidney(4)|lung(6)	11						CCGTGCGTCTGGTGGAAGGCC	0.697000													6	6					0.00116845	0.00128212	1	1	0
RGS3	5998	broad.mit.edu	37	9	116276858	116276858	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:116276858C>T	ENST00000374140.2	+	16	1807	c.1598C>T	c.(1597-1599)cCg>cTg	p.P533L	RGS3_ENST00000343817.5_Missense_Mutation_p.P252L|RGS3_ENST00000317613.6_Missense_Mutation_p.P421L|RGS3_ENST00000374136.1_Missense_Mutation_p.P159L|RGS3_ENST00000394646.3_Missense_Mutation_p.P252L|RGS3_ENST00000350696.5_Missense_Mutation_p.P533L	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	533					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						GTTGTGAGGCCGCATGCCACG	0.587000													21	87					0	0	1	0	0
CYP2C8	1558	broad.mit.edu	37	10	96805589	96805589	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:96805589C>A	ENST00000371270.3	-	6	1033	c.939G>T	c.(937-939)ctG>ctT	p.L313L	CYP2C8_ENST00000535898.1_Silent_p.L211L|CYP2C8_ENST00000539050.1_Silent_p.L227L	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	313					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	GGTGCTTCAGCAGGAGCAGGA	0.453000													8	28					2.17888e-05	2.63559e-05	1	1	0
GALNT8	26290	broad.mit.edu	37	12	4835819	4835819	+	Silent	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:4835819G>A	ENST00000252318.2	+	2	670	c.333G>A	c.(331-333)aaG>aaA	p.K111K	RP11-234B24.6_ENST00000544741.2_3'UTR	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	111						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						AGACAAAGAAGCACAAAACCC	0.498000													6	45					0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73735960	73735960	+	Splice_Site	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:73735960G>A	ENST00000200181.3	+	20	2441		c.e20-1		ITGB4_ENST00000450894.3_Splice_Site|ITGB4_ENST00000584558.1_Splice_Site|ITGB4_ENST00000579662.1_Splice_Site|ITGB4_ENST00000449880.2_Splice_Site|ITGB4_ENST00000339591.3_Splice_Site	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4						cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCATCCTGCAGGTCACATGGT	0.622000													41	67					0	0	1	0	0
RFPL3	10738	broad.mit.edu	37	22	32756608	32756608	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr22:32756608T>A	ENST00000249007.4	+	2	948	c.743T>A	c.(742-744)tTt>tAt	p.F248Y	RFPL3_ENST00000382088.3_Missense_Mutation_p.F219Y|RFPL3S_ENST00000400234.1_3'UTR|RFPL3S_ENST00000382084.4_3'UTR|RFPL3_ENST00000397468.1_Missense_Mutation_p.F219Y	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	248	B30.2/SPRY.						zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						GTGGGGATTTTTCTGGATATG	0.522000													20	78					0	0	1	0	0
C1QA	712	broad.mit.edu	37	1	22965763	22965763	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:22965763G>T	ENST00000374642.3	+	3	805	c.601G>T	c.(601-603)Gtg>Ttg	p.V201L	C1QA_ENST00000402322.1_Missense_Mutation_p.V201L	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	201	C1q.				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CTTCCAGGTGGTGTCAGGGGG	0.597000													52	61					1.81118e-26	3.57909e-26	1	1	0
GPR124	25960	broad.mit.edu	37	8	37698648	37698648	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:37698648C>A	ENST00000315215.7	+	16	2504	c.2141C>A	c.(2140-2142)cCt>cAt	p.P714H	GPR124_ENST00000412232.2_Missense_Mutation_p.P931H			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	931	GPS.				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TTCTACATCCCTGTGGCTTTG	0.612000													13	46					9.31168e-06	1.1512e-05	1	1	0
LAMA1	284217	broad.mit.edu	37	18	6948535	6948535	+	Silent	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr18:6948535G>A	ENST00000389658.3	-	60	8670	c.8577C>T	c.(8575-8577)gcC>gcT	p.A2859A		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2859	Laminin G-like 4.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCCCAATGCAGGCAGGGATGC	0.517000													16	37					0	0	1	0	0
RCBTB1	55213	broad.mit.edu	37	13	50141335	50141335	+	Silent	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr13:50141335G>A	ENST00000378302.2	-	3	341	c.81C>T	c.(79-81)ttC>ttT	p.F27F	RCBTB1_ENST00000258646.3_Silent_p.F27F|RCBTB1_ENST00000546015.1_Silent_p.F27F	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	27					cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		CTGAGGTGCCGAAGACACACG	0.473000													11	15					0	0	1	0	0
OR52D1	390066	broad.mit.edu	37	11	5510454	5510454	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:5510454G>T	ENST00000322641.5	+	1	540	c.518G>T	c.(517-519)gGt>gTt	p.G173V	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCTACTGTGGTCACCGTGTC	0.507000													32	124					1.30988e-24	2.53088e-24	1	1	0
OR51B6	390058	broad.mit.edu	37	11	5372875	5372875	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:5372875C>A	ENST00000380219.1	+	1	138	c.138C>A	c.(136-138)ctC>ctA	p.L46L	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCTCTTTCTCATCAGGAATG	0.478000													12	26					3.07112e-06	3.87684e-06	1	1	0
PRG4	10216	broad.mit.edu	37	1	186276407	186276407	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:186276407C>T	ENST00000445192.2	+	7	1601	c.1556C>T	c.(1555-1557)cCc>cTc	p.P519L	PRG4_ENST00000367485.4_Missense_Mutation_p.P426L|PRG4_ENST00000367486.3_Missense_Mutation_p.P476L|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.P478L	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	519	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCCACCACTCCCAAGGAGCCT	0.642000													31	128					0	0	1	0	0
SIX6	4990	broad.mit.edu	37	14	60977881	60977881	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr14:60977881G>T	ENST00000327720.5	+	2	1100	c.652G>T	c.(652-654)Gtc>Ttc	p.V218F		NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN	SIX homeobox 6	218					organ morphogenesis|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.088)		GGTGCTGGGCGTCGCCACCAG	0.662000													34	30					2.51541e-25	4.92035e-25	1	1	0
CLSPN	63967	broad.mit.edu	37	1	36209101	36209101	+	Silent	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:36209101T>A	ENST00000251195.5	-	17	3093	c.2997A>T	c.(2995-2997)ggA>ggT	p.G999G	CLSPN_ENST00000373220.3_Silent_p.G935G|CLSPN_ENST00000318121.3_Silent_p.G999G|RP11-435D7.3_ENST00000373226.2_RNA|CLSPN_ENST00000520551.1_Silent_p.G946G			Q9HAW4	CLSPN_HUMAN	claspin	999					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCCGAAAGTCTCCAAATTCCT	0.378000													6	24					0	0	1	0	0
ALDH16A1	126133	broad.mit.edu	37	19	49968019	49968019	+	Splice_Site	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:49968019G>T	ENST00000293350.4	+	12	1731	c.1568_splice	c.e12+1	p.S523_splice	CTD-3148I10.9_ENST00000599536.1_3'UTR|ALDH16A1_ENST00000455361.2_Splice_Site_p.S472_splice|ALDH16A1_ENST00000433981.2_Splice_Site_p.S358_splice|ALDH16A1_ENST00000540132.1_Splice_Site_p.S360_splice	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	523							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		ATAGGGCCCAGGTGAGTCGTT	0.627000													39	144					5.71845e-15	9.80548e-15	1	1	0
PTGIS	5740	broad.mit.edu	37	20	48156132	48156132	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr20:48156132T>A	ENST00000244043.4	-	5	677	c.648A>T	c.(646-648)aaA>aaT	p.K216N	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	216					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	CACGGGCCAGTTTGGGGAGCA	0.642000													6	25					0	0	1	0	0
SH3BP5L	80851	broad.mit.edu	37	1	249106449	249106449	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:249106449C>A	ENST00000366472.5	-	7	2061	c.832G>T	c.(832-834)Ggt>Tgt	p.G278C	SH3BP5L_ENST00000411742.2_Missense_Mutation_p.G246C|SH3BP5L_ENST00000475978.1_5'UTR	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	278										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GGAGGCAGACCCCCGCGGCGC	0.697000													10	26					2.17888e-05	2.63559e-05	1	1	0
NCAN	1463	broad.mit.edu	37	19	19337842	19337842	+	Silent	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:19337842C>T	ENST00000252575.5	+	7	1663	c.1620C>T	c.(1618-1620)ccC>ccT	p.P540P	NCAN_ENST00000538881.1_5'UTR	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	540					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			GCCGGAGCCCCTGGGCTGATC	0.632000													27	43					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70871819	70871819	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:70871819G>T	ENST00000322773.4	+	35	2422	c.2320G>T	c.(2320-2322)Ggt>Tgt	p.G774C	COL19A1_ENST00000393344.1_Missense_Mutation_p.G396C	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	774	Triple-helical region 4 (COL4).				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						AGGCATTCCAGGTGCTCCAGG	0.393000													6	9					2.7689e-08	3.94227e-08	1	1	0
MAP2K7	5609	broad.mit.edu	37	19	7975956	7975956	+	Missense_Mutation	SNP	A	A	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:7975956A>C	ENST00000545011.1	+	7	958	c.893A>C	c.(892-894)cAg>cCg	p.Q298P	MAP2K7_ENST00000397979.3_Missense_Mutation_p.Q256P|MAP2K7_ENST00000397981.3_Missense_Mutation_p.Q256P|MAP2K7_ENST00000397983.3_Missense_Mutation_p.Q272P			O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	256	Protein kinase.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	GAGCGGGGCCAGATCAAGCTC	0.637000													8	60					0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130218650	130218650	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chrX:130218650C>A	ENST00000276211.5	+	6	1144	c.799C>A	c.(799-801)Cgt>Agt	p.R267S	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R255S|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R131S	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	267	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.R267C(2)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GCAGCGAGTGCGTCAGGTAAA	0.498000													38	18					1.71298e-08	2.45499e-08	1	1	0
EP400	57634	broad.mit.edu	37	12	132562164	132562164	+	Silent	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:132562164G>A	ENST00000333577.4	+	54	9535	c.9426G>A	c.(9424-9426)caG>caA	p.Q3142Q	EP400_ENST00000330386.6_Silent_p.Q3025Q|EP400_ENST00000389562.2_Silent_p.Q3105Q|EP400_ENST00000332482.4_Silent_p.Q3069Q|EP400_ENST00000389561.2_Silent_p.Q3106Q			Q96L91	EP400_HUMAN	E1A binding protein p400	3142					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCAAGTTACAGATGAGGGTCC	0.622000													24	35					0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20295856	20295856	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr14:20295856G>T	ENST00000568211.1	+	1	249	c.249G>T	c.(247-249)gtG>gtT	p.V83V	OR4N2_ENST00000315947.1_Silent_p.V83V			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGATGTTGGTGGACTTCCTCT	0.527000													99	99					8.45e-40	1.72475e-39	1	1	0
PARK2	5071	broad.mit.edu	37	6	161970003	161970003	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:161970003C>A	ENST00000366898.1	-	9	1068	c.966G>T	c.(964-966)gaG>gaT	p.E322D	PARK2_ENST00000338468.3_Missense_Mutation_p.E131D|PARK2_ENST00000366894.1_Missense_Mutation_p.E131D|PARK2_ENST00000366896.1_Missense_Mutation_p.E173D|PARK2_ENST00000366897.1_Missense_Mutation_p.E294D|PARK2_ENST00000366892.1_Missense_Mutation_p.E322D	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	322					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		GCAGGACACACTCCTCTGCAC	0.572000													74	23					1.356e-25	2.66747e-25	1	1	0
WHSC1	7468	broad.mit.edu	37	4	1961455	1961455	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr4:1961455G>T	ENST00000382895.3	+	19	3674	c.3243G>T	c.(3241-3243)agG>agT	p.R1081S	WHSC1_ENST00000382888.3_Missense_Mutation_p.R429S|WHSC1_ENST00000382892.2_Missense_Mutation_p.R1081S|WHSC1_ENST00000382891.5_Missense_Mutation_p.R1081S|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000508803.1_Missense_Mutation_p.R1081S	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	1081	SET.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TCGCCAAGAGGGACATCAGAA	0.522000			T	IGH@	MM								31	42					7.26314e-15	1.24174e-14	1	1	0
GPR123	84435	broad.mit.edu	37	10	134896138	134896138	+	Silent	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:134896138G>A	ENST00000607359.1	+	6	1224	c.1224G>A	c.(1222-1224)caG>caA	p.Q408Q				Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CTGAGGCCCAGCGGGTAGAGG	0.587000													26	16					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78369326	78369326	+	Missense_Mutation	SNP	T	T	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:78369326T>G	ENST00000278550.7	-	34	8549	c.8087A>C	c.(8086-8088)cAg>cCg	p.Q2696P		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		CACGGCTCTCTGCCGGGCCAG	0.657000													33	101					0	0	1	0	0
KBTBD8	84541	broad.mit.edu	37	3	67053653	67053653	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:67053653C>G	ENST00000295568.4	+	3	315	c.184C>G	c.(184-186)Caa>Gaa	p.Q62E	KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000417314.2_Missense_Mutation_p.Q88E|KBTBD8_ENST00000469661.1_Intron	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	88	BTB.							p.Q62K(1)|p.Q88K(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		AGAAAGTACTCAAAAAGAAGT	0.368000													7	33					0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	34003515	34003515	+	Missense_Mutation	SNP	A	A	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:34003515A>C	ENST00000374181.3	-	8	2541	c.2372T>G	c.(2371-2373)aTg>aGg	p.M791R	GRM4_ENST00000535756.1_Missense_Mutation_p.M658R|GRM4_ENST00000538487.1_Missense_Mutation_p.M791R|GRM4_ENST00000455714.2_Missense_Mutation_p.M651R|GRM4_ENST00000374177.3_Missense_Mutation_p.M675R|GRM4_ENST00000544773.1_Missense_Mutation_p.M622R|GRM4_ENST00000545715.1_Missense_Mutation_p.M483R	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	791					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	AGTGGTGTACATGGTGAAGCC	0.612000													24	51					0	0	1	0	0
TRIB1	10221	broad.mit.edu	37	8	126448527	126448527	+	Silent	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:126448527C>T	ENST00000311922.3	+	3	1515	c.933C>T	c.(931-933)gcC>gcT	p.A311A	TRIB1_ENST00000520847.1_Silent_p.A145A|TRIB1_ENST00000519576.1_Silent_p.A80A	NM_025195.2	NP_079471.1	Q96RU8	TRIB1_HUMAN	tribbles pseudokinase 1	311	Protein kinase.				JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide	cytoplasm|nucleus	ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			CCCCCAAAGCCAGGTGCCTCA	0.577000													46	223					0	0	1	0	0
SMG8	55181	broad.mit.edu	37	17	57288527	57288527	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:57288527C>G	ENST00000543872.2	+	2	1379	c.1115C>G	c.(1114-1116)cCc>cGc	p.P372R	SMG8_ENST00000578922.1_Missense_Mutation_p.P372R|SMG8_ENST00000300917.5_Missense_Mutation_p.P372R|SMG8_ENST00000580498.1_Intron|CTD-2510F5.6_ENST00000577660.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	372					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						GTGCCTGCACCCCTTTCTGGG	0.542000													28	147					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126372395	126372395	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr4:126372395C>A	ENST00000394329.3	+	9	10237	c.10224C>A	c.(10222-10224)atC>atA	p.I3408I	FAT4_ENST00000335110.5_Silent_p.I1706I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3408	Cadherin 33.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTCTAAACATCTACAGTGTGC	0.463000													12	55					0.00136819	0.00149657	1	1	0
NYAP1	222950	broad.mit.edu	37	7	100087133	100087133	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:100087133G>T	ENST00000423930.1	+	4	1948	c.1789G>T	c.(1789-1791)Ggg>Tgg	p.G597W	NYAP1_ENST00000454988.1_Missense_Mutation_p.G540W|NYAP1_ENST00000300179.2_Missense_Mutation_p.G597W			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	597																	AGGGACCGATGGGGGTGCTTT	0.637000													40	31					2.87052e-16	5.06717e-16	1	1	0
CRBN	51185	broad.mit.edu	37	3	3221358	3221358	+	Missense_Mutation	SNP	C	C	A	rs143087756		TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:3221358C>A	ENST00000231948.4	-	1	36	c.14G>T	c.(13-15)gGa>gTa	p.G5V	CRBN_ENST00000432408.2_Missense_Mutation_p.G5V	NM_016302.3	NP_057386.2	Q96SW2	CRBN_HUMAN	cereblon	5					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul4A-RING ubiquitin ligase complex|cytoplasm|membrane|nucleus	ATP-dependent peptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	11				Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)		CTGCTGATCTCCTTCGCCGGC	0.687000											OREG0015364	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	30					3.07112e-06	3.87684e-06	1	1	0
MON2	23041	broad.mit.edu	37	12	62902145	62902145	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:62902145G>T	ENST00000393630.3	+	8	1260	c.869G>T	c.(868-870)aGa>aTa	p.R290I	MON2_ENST00000393629.2_Missense_Mutation_p.R290I|MON2_ENST00000552738.1_Missense_Mutation_p.R290I|MON2_ENST00000549378.1_3'UTR|MON2_ENST00000393632.2_Missense_Mutation_p.R290I|MON2_ENST00000280379.6_Missense_Mutation_p.R290I|MON2_ENST00000546600.1_Missense_Mutation_p.R290I|MON2_ENST00000552115.1_Missense_Mutation_p.R290I	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	290					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		ATAAAGTTCAGACAAGGTTCC	0.388000													17	29					2.23348e-06	2.84843e-06	1	1	0
MYADM	91663	broad.mit.edu	37	19	54377020	54377020	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:54377020C>A	ENST00000391769.2	+	3	517	c.237C>A	c.(235-237)acC>acA	p.T79T	MYADM_ENST00000336967.3_Silent_p.T79T|MYADM_ENST00000391768.2_Silent_p.T79T|MYADM_ENST00000391770.4_Silent_p.T79T|MYADM_ENST00000391771.1_Silent_p.T79T	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	79	MARVEL 1.			Missing (in Ref. 4; BAC04265).		integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		TCTCCGTGACCCTGATCATCC	0.637000											OREG0003650	type=REGULATORY REGION|Gene=MYADM|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	25	124					4.4004e-07	5.85709e-07	1	1	0
OR2A25	392138	broad.mit.edu	37	7	143771878	143771878	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:143771878C>A	ENST00000408898.2	+	1	604	c.566C>A	c.(565-567)gCg>gAg	p.A189E		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A189E(1)|p.A189V(1)		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)					CTTGCCTGTGCGGATACCCAC	0.433000													15	73					4.93089e-13	8.1571e-13	1	1	0
MMP17	4326	broad.mit.edu	37	12	132325308	132325308	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:132325308G>C	ENST00000360564.1	+	4	715	c.613G>C	c.(613-615)Ggc>Cgc	p.G205R	MMP17_ENST00000535182.1_3'UTR|MMP17_ENST00000535291.1_Missense_Mutation_p.G121R	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	205					proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		CGGCCCCGGCGGCACCGTGGC	0.692000													22	81					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31313457	31313457	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:31313457G>T	ENST00000265071.2	+	8	1551	c.1286G>T	c.(1285-1287)aGa>aTa	p.R429I	CDH6_ENST00000514738.1_Missense_Mutation_p.R374I	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	429	Cadherin 4.				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						GATATGGACAGAATATTCAAC	0.373000													11	57					1.58986e-06	2.0517e-06	1	1	0
GPR125	166647	broad.mit.edu	37	4	22390139	22390139	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr4:22390139T>A	ENST00000334304.5	-	19	3424	c.3155A>T	c.(3154-3156)gAt>gTt	p.D1052V	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1052					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				AAGTCTAACATCCTCCCTATT	0.483000													21	31					0	0	1	0	0
PCDHGB7	56099	broad.mit.edu	37	5	140797658	140797658	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:140797658G>C	ENST00000398594.2	+	1	232	c.232G>C	c.(232-234)Gac>Cac	p.D78H	PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCAGCGTAGACGCGCAGAG	0.552000													22	82					0	0	1	0	0
P4HB	5034	broad.mit.edu	37	17	79801924	79801924	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:79801924T>A	ENST00000331483.4	-	11	1713	c.1491A>T	c.(1489-1491)gaA>gaT	p.E497D	P4HB_ENST00000439918.2_Missense_Mutation_p.E453D|P4HB_ENST00000576390.1_Intron	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	497					cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			GATCATCGTCTTCCTCCATGT	0.607000													68	260					0	0	1	0	0
PDZRN3	23024	broad.mit.edu	37	3	73437170	73437170	+	Silent	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:73437170G>C	ENST00000263666.4	-	8	1581	c.1467C>G	c.(1465-1467)acC>acG	p.T489T	PDZRN3_ENST00000466780.1_Silent_p.T146T|PDZRN3_ENST00000462146.2_Silent_p.T146T|PDZRN3_ENST00000479530.1_Silent_p.T206T|PDZRN3_ENST00000535920.1_Silent_p.T211T|PDZRN3_ENST00000466348.1_5'UTR	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	489	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TTTCTTCACTGGTTAGAAGAG	0.413000													10	49					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139629192	139629192	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:139629192C>A	ENST00000303045.6	-	54	4281	c.3835G>T	c.(3835-3837)Gga>Tga	p.G1279*	COL22A1_ENST00000435777.1_Nonsense_Mutation_p.G1259*|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1279	Collagen-like 12.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCTGTGTGTCCCTTGAAGCCC	0.592000										HNSCC(7;0.00092)			30	101					5.45727e-16	9.58471e-16	1	1	0
ZSCAN20	7579	broad.mit.edu	37	1	33957077	33957077	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:33957077G>T	ENST00000361328.3	+	6	1372	c.1219G>T	c.(1219-1221)Gcc>Tcc	p.A407S	ZSCAN20_ENST00000373413.2_Missense_Mutation_p.A353S	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	407					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGAGCTGGAGGCCCTGGTCAG	0.592000													26	87					1.64293e-13	2.7493e-13	1	1	0
ARID4A	5926	broad.mit.edu	37	14	58785524	58785524	+	Splice_Site	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr14:58785524G>T	ENST00000355431.3	+	7	822		c.e7+1		ARID4A_ENST00000431317.2_Splice_Site|ARID4A_ENST00000348476.3_Splice_Site|ARID4A_ENST00000395168.3_Splice_Site	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)						negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CTCTTCCTGTGTGAGTTTTTT	0.348000													7	10					0.000157383	0.000181765	1	1	0
TENM2	57451	broad.mit.edu	37	5	167617547	167617547	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:167617547C>A	ENST00000519204.1	+	13	2530	c.2412C>A	c.(2410-2412)aaC>aaA	p.N804K	TENM2_ENST00000403607.2_Missense_Mutation_p.N749K|TENM2_ENST00000520394.1_Missense_Mutation_p.N693K|TENM2_ENST00000545108.1_Missense_Mutation_p.N925K|TENM2_ENST00000518659.1_Missense_Mutation_p.N925K					teneurin transmembrane protein 2																		ACCCTTTCAACAGCAGGTAGG	0.542000													10	12					3.86212e-05	4.60117e-05	1	1	0
SYT9	143425	broad.mit.edu	37	11	7441843	7441843	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:7441843G>A	ENST00000318881.6	+	6	1681	c.1444G>A	c.(1444-1446)Gca>Aca	p.A482T		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	482						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		GAAGCCCATTGCACACTGGCA	0.493000													4	45					0	0	1	0	0
SARS	6301	broad.mit.edu	37	1	109777947	109777947	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:109777947A>T	ENST00000369923.4	+	7	874	c.863A>T	c.(862-864)gAg>gTg	p.E288V	SARS_ENST00000234677.2_Missense_Mutation_p.E288V			P49591	SYSC_HUMAN	seryl-tRNA synthetase	288					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	CTCCGGCCGGAGGACCTGCCC	0.577000													26	82					0	0	1	0	0
BTN1A1	696	broad.mit.edu	37	6	26508825	26508825	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:26508825C>A	ENST00000244513.6	+	7	1070	c.1004C>A	c.(1003-1005)cCt>cAt	p.P335H		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	335	B30.2/SPRY.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						CAGAAACTGCCTGAGAAAACA	0.512000													58	125					2.76378e-25	5.38798e-25	1	1	0
TTC7B	145567	broad.mit.edu	37	14	91282590	91282590	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr14:91282590C>G	ENST00000357056.2	-	1	171	c.50G>C	c.(49-51)tGc>tCc	p.C17S	TTC7B_ENST00000328459.6_Missense_Mutation_p.C17S			Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	17							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				CTCGGAGCGGCAGCGCTCGAT	0.756000													9	15					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207785158	207785158	+	Silent	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:207785158G>A	ENST00000367049.4	+	38	6432	c.6432G>A	c.(6430-6432)acG>acA	p.T2144T	CR1_ENST00000367052.1_Silent_p.T1694T|CR1_ENST00000367053.1_Silent_p.T1694T|CR1_ENST00000367051.1_Silent_p.T1694T|CR1_ENST00000400960.2_Silent_p.T1694T	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1694					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						TGCACTGCACGCCCCAGGGAG	0.552000													145	152					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48264873	48264873	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:48264873G>C	ENST00000225964.5	-	46	3513	c.3395C>G	c.(3394-3396)tCt>tGt	p.S1132C		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1132	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	AGAGGCTCCAGAGGGACCTTG	0.597000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						19	42					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216262481	216262481	+	Splice_Site	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:216262481C>A	ENST00000366943.2	-	23	5145	c.4758_splice	c.e23-1	p.G1587_splice	USH2A_ENST00000307340.3_Splice_Site_p.G1587_splice			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1587	Laminin G-like 1.				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)		ACTGGTGACCCCTTAAGGGAA	0.318000										HNSCC(13;0.011)			7	14					1	1	1	1	0
SEZ6L2	26470	broad.mit.edu	37	16	29884968	29884968	+	Silent	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr16:29884968G>C	ENST00000308713.5	-	13	2714	c.2187C>G	c.(2185-2187)gtC>gtG	p.V729V	SEZ6L2_ENST00000346932.5_Silent_p.V615V|SEZ6L2_ENST00000537485.1_Silent_p.V685V|SEZ6L2_ENST00000350527.3_Silent_p.V659V	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	729	Sushi 4.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGCGGTACTGGACGTGGGAGC	0.652000													17	56					0	0	1	0	0
CYP4F8	11283	broad.mit.edu	37	19	15730464	15730464	+	RNA	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:15730464G>T	ENST00000441682.2	+	0	480							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CTCTTGTTAAGTGTTGGTGAC	0.527000													8	32					0.000157383	0.000181765	1	1	0
KMT2B	9757	broad.mit.edu	37	19	36227814	36227814	+	Splice_Site	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:36227814G>T	ENST00000222270.7	+	32	7299	c.7297_splice	c.e32-1	p.G2433_splice	KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Splice_Site_p.G2433_splice	NM_014727.1	NP_055542.1																					TCTCCCCAGGGGCGTGGAGAA	0.602000													26	37					4.26978e-12	6.85453e-12	1	1	0
BCAS3	54828	broad.mit.edu	37	17	59118183	59118183	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:59118183G>T	ENST00000589222.1	+	19	2027	c.1959G>T	c.(1957-1959)ccG>ccT	p.P653P	BCAS3_ENST00000588462.1_Silent_p.P668P|BCAS3_ENST00000588874.1_Silent_p.P424P|BCAS3_ENST00000407086.3_Silent_p.P653P|RP11-264B14.1_ENST00000588604.1_RNA|BCAS3_ENST00000585744.1_Silent_p.P439P|BCAS3_ENST00000408905.3_Silent_p.P653P|BCAS3_ENST00000390652.5_Silent_p.P668P			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	668						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TGCAGCCACCGTTTAATGCAA	0.403000													17	71					3.41278e-10	5.19545e-10	1	1	0
LAMA5	3911	broad.mit.edu	37	20	60897445	60897445	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr20:60897445C>A	ENST00000252999.3	-	47	6292	c.6226G>T	c.(6226-6228)Gcc>Tcc	p.A2076S		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2076	Laminin EGF-like 21.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAGCCCTCGGCGGCCGGTCCA	0.697000													5	16					0.000602214	0.000671403	1	1	0
GRIK1	2897	broad.mit.edu	37	21	30927398	30927398	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr21:30927398G>T	ENST00000399914.1	-	15	3058	c.2537C>A	c.(2536-2538)tCa>tAa	p.S846*	GRIK1_ENST00000399907.1_Nonsense_Mutation_p.S861*|GRIK1_ENST00000389125.3_Nonsense_Mutation_p.S846*|GRIK1_ENST00000389124.2_Nonsense_Mutation_p.S861*|GRIK1_ENST00000399909.1_Nonsense_Mutation_p.S846*|GRIK1_ENST00000535441.1_Nonsense_Mutation_p.S863*|GRIK1_ENST00000399913.1_Nonsense_Mutation_p.S861*|GRIK1_ENST00000309434.7_Nonsense_Mutation_p.S863*|GRIK1_ENST00000327783.4_Nonsense_Mutation_p.S861*			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	861					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	ATTCTTCCGTGATTTGTATAT	0.393000													17	59					1.15088e-07	1.5679e-07	1	1	0
DMKN	93099	broad.mit.edu	37	19	36004049	36004049	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:36004049C>T	ENST00000339686.3	-	1	505	c.329G>A	c.(328-330)gGg>gAg	p.G110E	DMKN_ENST00000418261.1_Missense_Mutation_p.G110E|DMKN_ENST00000429837.1_Missense_Mutation_p.G110E|DMKN_ENST00000447113.2_Missense_Mutation_p.G110E|DMKN_ENST00000419602.1_Missense_Mutation_p.G110E|DMKN_ENST00000451297.2_Missense_Mutation_p.G110E|DMKN_ENST00000440396.1_Missense_Mutation_p.G110E|DMKN_ENST00000424570.2_Missense_Mutation_p.G110E	NM_033317.4	NP_201574.3	Q6E0U4	DMKN_HUMAN	dermokine	110	Gly-rich.					extracellular region				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			AATCTCGTGCCCAGTGTTTCC	0.607000													44	37					0	0	1	0	0
TIMP3	7078	broad.mit.edu	37	22	33253256	33253256	+	Silent	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr22:33253256G>A	ENST00000266085.6	+	3	526	c.225G>A	c.(223-225)aaG>aaA	p.K75K	SYN3_ENST00000332840.5_Intron|SYN3_ENST00000358763.2_Intron	NM_000362.4	NP_000353.1	P35625	TIMP3_HUMAN	TIMP metallopeptidase inhibitor 3	75	NTR.				negative regulation of membrane protein ectodomain proteolysis|visual perception		metal ion binding|metalloendopeptidase inhibitor activity|protein binding			endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						GCTTCACCAAGATGCCCCATG	0.512000													4	37					0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7415814	7415814	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:7415814G>T	ENST00000322644.6	+	27	4910	c.4511G>T	c.(4510-4512)gGt>gTt	p.G1504V		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1504					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				ATGTTCTTTGGTTCAGCACCC	0.582000													46	16					3.54561e-26	6.9906e-26	1	1	0
TNFRSF13B	23495	broad.mit.edu	37	17	16852292	16852292	+	Missense_Mutation	SNP	G	G	T	rs72553875		TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:16852292G>T	ENST00000437538.2	-	2	75	c.67C>A	c.(67-69)Ctc>Atc	p.L23I	TNFRSF13B_ENST00000579315.1_Missense_Mutation_p.L69I|TNFRSF13B_ENST00000581616.2_5'UTR|TNFRSF13B_ENST00000261652.2_Missense_Mutation_p.L69I|TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.L23I			O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	69					cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						CGGCAGCTGAGTGACCCTGGG	0.478000									IgA Deficiency, Selective				30	36					2.4375e-19	4.48035e-19	1	1	0
FLG	2312	broad.mit.edu	37	1	152277157	152277157	+	Missense_Mutation	SNP	C	C	T	rs111684654	byFrequency	TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:152277157C>T	ENST00000368799.1	-	3	10240	c.10205G>A	c.(10204-10206)cGg>cAg	p.R3402Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3402	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGTCCTGGTCCGCCCATGGGC	0.602000									Ichthyosis				220	882					0	0	1	0	0
DVL3	1857	broad.mit.edu	37	3	183885798	183885798	+	Silent	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:183885798C>T	ENST00000313143.3	+	13	1691	c.1443C>T	c.(1441-1443)gtC>gtT	p.V481V	DVL3_ENST00000431765.1_Silent_p.V464V|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	481	DEP.				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			GCCATACCGTCAACAAGATCA	0.572000													50	132					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66899627	66899627	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:66899627C>A	ENST00000269080.2	-	18	2429	c.2292G>T	c.(2290-2292)ttG>ttT	p.L764F	ABCA8_ENST00000430352.2_Missense_Mutation_p.L804F|ABCA8_ENST00000586539.1_Missense_Mutation_p.L804F	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	764						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GTACTTCTCCCAAAATAGCAA	0.388000													17	42					4.7546e-09	6.96941e-09	1	1	0
MMP26	56547	broad.mit.edu	37	11	5012714	5012714	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:5012714G>T	ENST00000380390.1	+	5	799	c.583G>T	c.(583-585)Gct>Tct	p.A195S	MMP26_ENST00000300762.1_Missense_Mutation_p.A195S			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	195					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		ACACTGGTCAGCTTCAGACAC	0.473000													13	39					9.31168e-06	1.1512e-05	1	1	0
RSPO1	284654	broad.mit.edu	37	1	38078564	38078564	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:38078564G>T	ENST00000356545.2	-	8	1442	c.655C>A	c.(655-657)Cgg>Agg	p.R219R	RSPO1_ENST00000401068.1_Silent_p.R219R|RSPO1_ENST00000401069.1_Silent_p.R219R|RSPO1_ENST00000401071.2_Silent_p.R156R|RSPO1_ENST00000373059.1_Silent_p.R192R|RSPO1_ENST00000401070.1_Silent_p.R156R	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	219					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTCTCCCGCCGGCCCTGGCCT	0.622000													20	91					1.00905e-13	1.69508e-13	1	1	0
AGAP2	116986	broad.mit.edu	37	12	58131152	58131152	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:58131152A>T	ENST00000547588.1	-	1	877	c.878T>A	c.(877-879)cTa>cAa	p.L293Q	AGAP2_ENST00000257897.3_Intron	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	293	Interaction with PLCG1 (By similarity).				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						TGGGAGGGTTAGCGGAGGAGG	0.652000													12	77					0	0	1	0	0
MCRS1	10445	broad.mit.edu	37	12	49956919	49956919	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:49956919T>A	ENST00000550165.1	-	9	936	c.670A>T	c.(670-672)Agc>Tgc	p.S224C	MCRS1_ENST00000357123.4_Missense_Mutation_p.S237C|MCRS1_ENST00000343810.4_Missense_Mutation_p.S224C|MCRS1_ENST00000546244.1_Missense_Mutation_p.S33C			Q96EZ8	MCRS1_HUMAN	microspherule protein 1	224					DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|MLL1 complex|nucleolus	protein binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						GTGGGCTGGCTGGTCTAGAGG	0.597000													4	4					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73464783	73464783	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:73464783C>A	ENST00000224721.6	+	24	2869	c.2864C>A	c.(2863-2865)aCc>aAc	p.T955N	CDH23_ENST00000299366.7_Missense_Mutation_p.T995N	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	950	Cadherin 9.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GTGGTCACCACCACCGAGCTG	0.667000													47	67					2.52991e-16	4.47956e-16	1	1	0
CPA4	51200	broad.mit.edu	37	7	129951927	129951927	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:129951927C>T	ENST00000222482.4	+	10	1071	c.1043C>T	c.(1042-1044)aCt>aTt	p.T348I	CPA4_ENST00000493259.1_Missense_Mutation_p.T244I|CPA4_ENST00000445470.2_Missense_Mutation_p.T315I	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	348					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					GTGTCGGGCACTGAGTACCAA	0.502000													7	55					0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55693237	55693237	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:55693237C>G	ENST00000376350.3	-	20	3255	c.3233G>C	c.(3232-3234)cGg>cCg	p.R1078P	PTPRH_ENST00000263434.5_Missense_Mutation_p.R900P	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	1078	Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R1078Q(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TTGGAGGAACCGCAGGATGCA	0.627000													54	87					0	0	1	0	0
STAT2	6773	broad.mit.edu	37	12	56742984	56742984	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:56742984G>A	ENST00000314128.4	-	16	1426	c.1403C>T	c.(1402-1404)tCa>tTa	p.S468L	STAT2_ENST00000557235.1_Missense_Mutation_p.S464L|STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000418572.2_Intron			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	468					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CCAGAGAACTGAAGCCCAGGC	0.547000													62	95					0	0	1	0	0
RIC8B	55188	broad.mit.edu	37	12	107208802	107208802	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:107208802G>T	ENST00000392837.4	+	3	612	c.461G>T	c.(460-462)cGg>cTg	p.R154L	RIC8B_ENST00000549643.1_Intron|RIC8B_ENST00000392839.2_Missense_Mutation_p.R154L|RIC8B_ENST00000355478.2_Missense_Mutation_p.R114L			Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	154					regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						TGCAAGGACCGGAAATTTATC	0.458000													14	81					1.5842e-08	2.27983e-08	1	1	0
ZNF544	27300	broad.mit.edu	37	19	58772809	58772809	+	Silent	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:58772809C>T	ENST00000269829.4	+	7	1311	c.837C>T	c.(835-837)ttC>ttT	p.F279F	ZNF544_ENST00000415203.2_Silent_p.F251F|ZNF544_ENST00000600220.1_Silent_p.F251F|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000596929.1_Intron|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000599953.1_Silent_p.F137F|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000600044.1_Silent_p.F251F|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000596652.1_Silent_p.F279F	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN	zinc finger protein 544	279					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)		GAAACCTCTTCAGTCACAGTG	0.433000													21	37					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1270532	1270532	+	Silent	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr16:1270532C>T	ENST00000348261.5	+	35	6848	c.6600C>T	c.(6598-6600)gaC>gaT	p.D2200D	CACNA1H_ENST00000358590.4_Silent_p.D2194D|CACNA1H_ENST00000565831.1_Silent_p.D2194D	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2200					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)	CTGCGGAGGACGAGGGCTCTG	0.716000													16	46					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	391189	391189	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:391189G>C	ENST00000256509.2	+	10	1638	c.996G>C	c.(994-996)ttG>ttC	p.L332F	CHL1_ENST00000397491.2_Missense_Mutation_p.L316F	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	316	Ig-like C2-type 4.				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)		GCAATTTCTTGGGAACAGCCA	0.393000													12	36					0	0	1	0	0
USP36	57602	broad.mit.edu	37	17	76803211	76803211	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:76803211C>A	ENST00000312010.6	-	14	2239	c.1915G>T	c.(1915-1917)Gat>Tat	p.D639Y	USP36_ENST00000449938.2_Missense_Mutation_p.D339Y|USP36_ENST00000542802.2_Missense_Mutation_p.D639Y	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	639					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			TCCTGAGAATCGCAGAGATGG	0.627000													14	79					1.5842e-08	2.27983e-08	1	1	0
INPP5J	27124	broad.mit.edu	37	22	31521871	31521871	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr22:31521871G>T	ENST00000331075.5	+	2	1195	c.1146G>T	c.(1144-1146)agG>agT	p.R382S	INPP5J_ENST00000412277.2_Missense_Mutation_p.R315S|INPP5J_ENST00000404390.3_Intron|INPP5J_ENST00000400294.2_Missense_Mutation_p.R15S|INPP5J_ENST00000405300.1_Missense_Mutation_p.R15S			Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	382						cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						GGCCTGGCAGGTGCCTGAGCC	0.637000													3	16					1	1	1	1	0
CCDC66	285331	broad.mit.edu	37	3	56627092	56627092	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:56627092G>T	ENST00000394672.3	+	8	1101	c.1031G>T	c.(1030-1032)cGt>cTt	p.R344L	CCDC66_ENST00000326595.7_Missense_Mutation_p.R310L|CCDC66_ENST00000436465.2_Missense_Mutation_p.R344L	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	344										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		GAAGATGACCGTCAAAGAAAA	0.308000													4	14					0.00909568	0.00962192	1	1	0
CRYBA4	1413	broad.mit.edu	37	22	27021531	27021531	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr22:27021531G>T	ENST00000354760.3	+	4	280	c.245G>T	c.(244-246)gGc>gTc	p.G82V	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	82	Beta/gamma crystallin 'Greek key' 2.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						GCCTGGGGCGGCAACACGGCC	0.637000													34	138					1.36615e-20	2.55711e-20	1	1	0
PTCHD4	442213	broad.mit.edu	37	6	48035982	48035982	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:48035982G>T	ENST00000543600.1	-	1	398	c.359C>A	c.(358-360)gCc>gAc	p.A120D	PTCHD4_ENST00000339488.4_Missense_Mutation_p.A137D			Q6ZW05	CF138_HUMAN	patched domain containing 4	137						integral to membrane	hedgehog receptor activity										TTCCAGCACGGCTCGGTGGGT	0.502000													29	86					7.26314e-15	1.24174e-14	1	1	0
CD164L2	388611	broad.mit.edu	37	1	27709014	27709014	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:27709014C>A	ENST00000374027.3	-	2	295	c.232G>T	c.(232-234)Gag>Tag	p.E78*	CD164L2_ENST00000374030.1_Nonsense_Mutation_p.E78*|CD164L2_ENST00000374025.3_Nonsense_Mutation_p.E78*	NM_207397.2	NP_997280.1	Q6UWJ8	C16L2_HUMAN	CD164 sialomucin-like 2	78						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CGGCACTGCTCCCACATGCAG	0.642000													15	45					3.27435e-08	4.62779e-08	1	1	0
KRTAP13-1	140258	broad.mit.edu	37	21	31768583	31768583	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr21:31768583G>T	ENST00000355459.2	+	1	192	c.179G>T	c.(178-180)tGc>tTc	p.C60F		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	60	5 X 10 AA approximate repeats.					intermediate filament				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CAGCAGACCTGCTGGGAGCCC	0.617000													28	170					7.76418e-22	1.47553e-21	1	1	0
ABCA10	10349	broad.mit.edu	37	17	67197767	67197767	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:67197767G>C	ENST00000269081.4	-	11	1958	c.1049C>G	c.(1048-1050)tCc>tGc	p.S350C	ABCA10_ENST00000432313.2_Missense_Mutation_p.S350C|ABCA10_ENST00000416101.2_Missense_Mutation_p.S350C	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	350					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CCAAAATGAGGACTTAAGGAA	0.333000													5	19					0	0	1	0	0
ERCC6	2074	broad.mit.edu	37	10	50679103	50679103	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:50679103G>C	ENST00000355832.5	-	17	3066	c.2988C>G	c.(2986-2988)ttC>ttG	p.F996L	ERCC6_ENST00000542458.1_Missense_Mutation_p.F366L|RP11-123B3.2_ENST00000423283.1_RNA	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	996	Helicase C-terminal.				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CATTGGATTTGAAAAACCGCC	0.333000								Direct reversal of damage;Nucleotide excision repair (NER)					16	35					0	0	1	0	0
TAAR9	134860	broad.mit.edu	37	6	132859552	132859552	+	RNA	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:132859552G>T	ENST00000434551.1	+	0	124					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)							plasma membrane	G-protein coupled receptor activity					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		CCTTGGTTTTGGGGCTGTGCT	0.493000													8	37					5.4927e-09	8.02424e-09	1	1	0
FAT3	120114	broad.mit.edu	37	11	92577542	92577542	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:92577542G>C	ENST00000298047.6	+	18	11026	c.11009G>C	c.(11008-11010)cGg>cCg	p.R3670P	FAT3_ENST00000525166.1_Missense_Mutation_p.R3520P|FAT3_ENST00000409404.2_Missense_Mutation_p.R3670P|FAT3_ENST00000533797.1_Missense_Mutation_p.R5P			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3670					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)				CATGGGTTCCGGCGCACCCTG	0.582000										TCGA Ovarian(4;0.039)			22	51					0	0	1	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48565406	48565406	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:48565406C>A	ENST00000354276.3	-	14	1433	c.1106G>T	c.(1105-1107)gGc>gTc	p.G369V	PLA2G4C_ENST00000599921.1_Missense_Mutation_p.G369V|CTD-2265M8.2_ENST00000596552.1_RNA|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.G379V|CTD-2265M8.2_ENST00000601950.1_RNA|CTD-2265M8.2_ENST00000601548.1_RNA|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.G369V|PLA2G4C_ENST00000596510.1_5'UTR	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	369	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		GTCCCGGATGCCACCTGTGGT	0.567000													17	41					4.14922e-12	6.68571e-12	1	1	0
SPATA31E1	286234	broad.mit.edu	37	9	90502607	90502607	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:90502607G>T	ENST00000325643.5	+	4	3271	c.3205G>T	c.(3205-3207)Gct>Tct	p.A1069S		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		GAGCACAGGGGCTCTGGGGAC	0.582000													46	65					1.76056e-25	3.44767e-25	1	1	0
CUEDC1	404093	broad.mit.edu	37	17	55945511	55945511	+	Splice_Site	SNP	G	G	T	rs145424515		TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:55945511G>T	ENST00000577830.1	-	8	1447	c.1034_splice	c.e8+1	p.S345_splice	CUEDC1_ENST00000577840.1_Splice_Site_p.S208_splice|CUEDC1_ENST00000578357.1_5'UTR|CUEDC1_ENST00000360238.2_Splice_Site_p.S345_splice|CUEDC1_ENST00000407144.2_Splice_Site_p.S345_splice	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN	CUE domain containing 1	345										endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						GAAAGGATACGACTGATGCTT	0.572000													26	55					4.26978e-12	6.85453e-12	1	1	0
CDH7	1005	broad.mit.edu	37	18	63511183	63511183	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr18:63511183G>T	ENST00000536984.2	+	7	1811	c.1117G>T	c.(1117-1119)Gag>Tag	p.E373*	CDH7_ENST00000323011.3_Nonsense_Mutation_p.E373*|CDH7_ENST00000397968.2_Nonsense_Mutation_p.E373*			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	373	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				AGATGTAGATGAGCCCCCTGT	0.498000													8	19					0.00307968	0.00331849	1	1	0
COL11A1	1301	broad.mit.edu	37	1	103380339	103380339	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:103380339C>A	ENST00000358392.2	-	51	4198	c.3881G>T	c.(3880-3882)gGg>gTg	p.G1294V	COL11A1_ENST00000353414.4_Missense_Mutation_p.G1243V|COL11A1_ENST00000370096.3_Missense_Mutation_p.G1282V|COL11A1_ENST00000512756.1_Missense_Mutation_p.G1166V	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1282	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACCAGCTTCCCCTTTCTCTCC	0.468000													9	16					0.000442599	0.00049728	1	1	0
ZC3H14	79882	broad.mit.edu	37	14	89034473	89034473	+	Missense_Mutation	SNP	A	A	G	rs147887635		TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr14:89034473A>G	ENST00000251038.5	+	3	395	c.170A>G	c.(169-171)aAc>aGc	p.N57S	ZC3H14_ENST00000555755.1_Missense_Mutation_p.N57S|ZC3H14_ENST00000336693.4_Missense_Mutation_p.N23S|ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000302216.8_Missense_Mutation_p.N57S|ZC3H14_ENST00000556945.1_Missense_Mutation_p.N57S|ZC3H14_ENST00000393514.5_Missense_Mutation_p.N57S|ZC3H14_ENST00000359301.3_Missense_Mutation_p.N23S	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	57						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						TTTCTAGGGAACAACACAATT	0.403000													2	5					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20976260	20976260	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr16:20976260G>T	ENST00000261383.3	-	53	8945	c.8946C>A	c.(8944-8946)acC>acA	p.T2982T	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2982					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)		GGGCAGCTTCGGTCCATCTGT	0.512000													60	98					1.13205e-32	2.27852e-32	1	1	0
CD209	30835	broad.mit.edu	37	19	7808995	7808995	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:7808995G>T	ENST00000315599.7	-	6	1033	c.1011C>A	c.(1009-1011)ccC>ccA	p.P337P	CD209_ENST00000394173.4_Silent_p.P176P|CD209_ENST00000204801.8_Silent_p.P293P|CD209_ENST00000601951.1_Silent_p.P313P|CD209_ENST00000593821.1_Silent_p.P201P|CD209_ENST00000593660.1_Silent_p.P267P|CD209_ENST00000315591.8_Silent_p.P313P|CD209_ENST00000602261.1_Silent_p.P245P|CD209_ENST00000301357.8_Silent_p.P201P|CD209_ENST00000601256.1_Intron|CD209_ENST00000394161.5_Silent_p.P101P|CD209_ENST00000354397.6_Silent_p.P331P	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	337	C-type lectin.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AGATCTACCTGGGCAACAGAG	0.537000													11	49					0.00829132	0.00883559	1	1	0
NYAP2	57624	broad.mit.edu	37	2	226378246	226378246	+	Silent	SNP	A	A	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:226378246A>G	ENST00000272907.6	+	3	794	c.381A>G	c.(379-381)acA>acG	p.T127T	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	127																	TTGGGGGCACAGACGATGACA	0.572000													13	59					0	0	1	0	0
OR1L4	254973	broad.mit.edu	37	9	125486955	125486955	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:125486955C>A	ENST00000259466.1	+	1	687	c.687C>A	c.(685-687)atC>atA	p.I229I		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						TGCTCAGAATCCCCTCTGCAG	0.522000													37	203					6.53348e-20	1.20988e-19	1	1	0
MIR548I2	100302277	broad.mit.edu	37	4	9557790	9557790	+	RNA	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr4:9557790G>A	ENST00000408348.1	-	0	147					NR_031688.1																						TATAGGTGATGAGATGGATCA	0.393000													35	44					0	0	1	0	0
UROC1	131669	broad.mit.edu	37	3	126219713	126219713	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:126219713G>T	ENST00000290868.2	-	11	1023	c.970C>A	c.(970-972)Cgc>Agc	p.R324S	UROC1_ENST00000383579.3_Missense_Mutation_p.R384S	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	324					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		TGGACCAGGCGCTCCCTGGGG	0.632000													11	69					1.08611e-07	1.48315e-07	1	1	0
ARHGAP22	58504	broad.mit.edu	37	10	49791161	49791161	+	Missense_Mutation	SNP	C	C	A	rs137922552		TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:49791161C>A	ENST00000249601.4	-	2	367	c.71G>T	c.(70-72)cGg>cTg	p.R24L	ARHGAP22_ENST00000417912.2_Missense_Mutation_p.R24L|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.R30L|ARHGAP22_ENST00000491108.1_5'UTR	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	24					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCCAGGGCTCCGGCTCTGCTC	0.637000													115	214					1.06059e-47	2.18793e-47	1	1	0
GPR32	2854	broad.mit.edu	37	19	51274704	51274704	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:51274704C>T	ENST00000270590.4	+	1	984	c.847C>T	c.(847-849)Cgg>Tgg	p.R283W		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	283						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TCTGTGGCGACGGGTGATGCT	0.577000													20	96					0	0	1	0	0
PLSCR4	57088	broad.mit.edu	37	3	145918826	145918826	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:145918826C>A	ENST00000354952.2	-	5	633	c.393G>T	c.(391-393)ctG>ctT	p.L131L	PLSCR4_ENST00000446574.2_Silent_p.L131L|PLSCR4_ENST00000383083.2_Intron|PLSCR4_ENST00000493382.1_Silent_p.L131L|PLSCR4_ENST00000433593.2_Intron	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	131					blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						ACATACTTTCCAGAGGCTCAA	0.313000													4	6					0.00024832	0.000283026	1	1	0
PRAMEF4	400735	broad.mit.edu	37	1	12943078	12943078	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:12943078G>T	ENST00000235349.5	-	2	208	c.138C>A	c.(136-138)ttC>ttA	p.F46L		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	46										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		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)		GTCTCCTGCTGAAGGCCTCCA	0.612000													100	63					1.99829e-37	4.05969e-37	1	1	0
PTCH1	5727	broad.mit.edu	37	9	98248120	98248120	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:98248120C>A	ENST00000430669.2	-	3	818	c.233G>T	c.(232-234)cGc>cTc	p.R78L	PTCH1_ENST00000429896.2_5'UTR|PTCH1_ENST00000375274.2_Missense_Mutation_p.R143L|PTCH1_ENST00000331920.6_Missense_Mutation_p.R144L|PTCH1_ENST00000437951.1_Missense_Mutation_p.R78L|PTCH1_ENST00000468211.2_Missense_Mutation_p.R78L|PTCH1_ENST00000548379.1_5'UTR|PTCH1_ENST00000421141.1_5'UTR|PTCH1_ENST00000418258.1_5'UTR			Q13635	PTC1_HUMAN	patched 1	144					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AATCTTCTGGCGAGTATAATT	0.388000													20	83					8.28177e-16	1.44432e-15	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152847262	152847262	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:152847262C>A	ENST00000367255.5	-	5	779	c.178G>T	c.(178-180)Ggt>Tgt	p.G60C	SYNE1_ENST00000413186.2_Missense_Mutation_p.G60C|SYNE1_ENST00000367253.4_Missense_Mutation_p.G60C|SYNE1_ENST00000341594.5_Missense_Mutation_p.G60C|SYNE1_ENST00000423061.1_Missense_Mutation_p.G60C|SYNE1_ENST00000367248.3_Missense_Mutation_p.G60C|SYNE1_ENST00000265368.4_Missense_Mutation_p.G60C|SYNE1_ENST00000448038.1_Missense_Mutation_p.G60C|SYNE1_ENST00000466159.2_Missense_Mutation_p.G60C	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	60	Actin-binding.|CH 1.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGTTTAACACCATCTTTCATG	0.398000										HNSCC(10;0.0054)			13	7					0.000219431	0.000252586	1	1	0
SH3BP4	23677	broad.mit.edu	37	2	235949692	235949692	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:235949692G>A	ENST00000409212.1	+	4	786	c.279G>A	c.(277-279)tgG>tgA	p.W93*	SH3BP4_ENST00000344528.4_Nonsense_Mutation_p.W93*|SH3BP4_ENST00000392011.2_Nonsense_Mutation_p.W93*			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	93	SH3.				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GTGAGTGGTGGTACGCACACA	0.522000													28	61					0	0	1	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43545799	43545799	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:43545799G>A	ENST00000430334.3	-	5	1217	c.1084C>T	c.(1084-1086)Cag>Tag	p.Q362*	PLEKHM1_ENST00000421073.2_Nonsense_Mutation_p.Q273*	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	362					intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					GAGGCTGCCTGGGCAGGAAGG	0.632000													53	60					0	0	1	0	0
TRIM37	4591	broad.mit.edu	37	17	57089793	57089793	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:57089793C>G	ENST00000376149.3	-	22	3034	c.2225G>C	c.(2224-2226)gGa>gCa	p.G742A	TRIM37_ENST00000393066.3_Missense_Mutation_p.G864A|TRIM37_ENST00000262294.7_Missense_Mutation_p.G864A|TRIM37_ENST00000393065.2_Missense_Mutation_p.G830A			O94972	TRI37_HUMAN	tripartite motif containing 37	864						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					CAGATGACCTCCTTTAGCATT	0.388000									Mulibrey Nanism				8	21					0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76753759	76753759	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr18:76753759G>T	ENST00000536229.3	+	1	2078	c.1369G>T	c.(1369-1371)Ggg>Tgg	p.G457W	SALL3_ENST00000537592.2_Missense_Mutation_p.G590W|SALL3_ENST00000575389.2_Missense_Mutation_p.G590W			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	590					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)		GCTCCTCGGCGGGCCGCCCCT	0.736000													6	6					0.00116845	0.00128212	1	1	0
FLG2	388698	broad.mit.edu	37	1	152330003	152330003	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:152330003T>C	ENST00000388718.5	-	3	331	c.259A>G	c.(259-261)Aag>Gag	p.K87E	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	87							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGAGGACCTTGTTGCAGGCC	0.433000													43	38					0	0	1	0	0
AP3B2	8120	broad.mit.edu	37	15	83330576	83330576	+	Splice_Site	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr15:83330576C>A	ENST00000261722.3	-	24	3167		c.e24+1		RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Splice_Site|AP3B2_ENST00000535359.1_Splice_Site	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit						endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GGAGCACTCACCCTGTTCCTT	0.527000													3	9					0.004672	0.00499401	1	1	0
FOXS1	2307	broad.mit.edu	37	20	30433162	30433162	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr20:30433162A>T	ENST00000375978.3	-	1	258	c.184T>A	c.(184-186)Tgg>Agg	p.W62R		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	62					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						CTGTTCTGCCAGCCGGGCCGG	0.632000													30	65					0	0	1	0	0
NRP2	8828	broad.mit.edu	37	2	206628559	206628559	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:206628559G>C	ENST00000360409.3	+	13	2997	c.2206G>C	c.(2206-2208)Gcc>Ccc	p.A736P	NRP2_ENST00000272849.3_Missense_Mutation_p.A736P|NRP2_ENST00000357118.4_Missense_Mutation_p.A736P|AC007362.3_ENST00000598710.1_RNA|NRP2_ENST00000357785.5_Missense_Mutation_p.A736P|AC007362.3_ENST00000423425.1_RNA|NRP2_ENST00000540841.1_Missense_Mutation_p.A736P|NRP2_ENST00000540178.1_Missense_Mutation_p.A736P|NRP2_ENST00000485684.1_3'UTR|NRP2_ENST00000412873.2_Missense_Mutation_p.A736P|AC007362.3_ENST00000596616.1_RNA	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	736	MAM.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GGTGCGGGAAGCCAGCCAGGA	0.677000											OREG0015155	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	77					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179542862	179542862	+	Silent	SNP	T	T	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:179542862T>C	ENST00000589042.1	-	145	34208	c.33984A>G	c.(33982-33984)ccA>ccG	p.P11328P	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.P10084P|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Silent_p.P11011P|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11011	Glu-rich.|Pro-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)			CTTTGGGTGGTGGTGCTTCCA	0.358000													4	16					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38905861	38905861	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:38905861A>G	ENST00000359357.3	+	76	11278	c.11024A>G	c.(11023-11025)aAc>aGc	p.N3675S	DNAH8_ENST00000441566.1_Missense_Mutation_p.N3639S|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.N3892S					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						ATCAAGATCAACGCGGCTCAG	0.512000													20	97					0	0	1	0	0
HOXA11	3207	broad.mit.edu	37	7	27224340	27224340	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:27224340G>T	ENST00000006015.3	-	1	495	c.424C>A	c.(424-426)Cag>Aag	p.Q142K	HOXA11-AS_ENST00000520360.1_RNA|HOXA11-AS_ENST00000522863.1_RNA	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	142					branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						TCGAAAAACTGGTCGAAAGCC	0.657000			T	NUP98	CML								6	49					0.217242	0.219645	1	1	0
UROC1	131669	broad.mit.edu	37	3	126202312	126202312	+	Splice_Site	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:126202312C>T	ENST00000290868.2	-	19	1844		c.e19-1		UROC1_ENST00000383579.3_Splice_Site	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1						histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CACCTCACCCCTGCAGGAGGC	0.607000													15	59					0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36779824	36779824	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:36779824G>T	ENST00000416516.2	-	2	817	c.327C>A	c.(325-327)ccC>ccA	p.P109P		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	109						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TGGCTTCCCTGGGGGGCTTGC	0.562000													42	144					1.15183e-24	2.22799e-24	1	1	0
NLRP14	338323	broad.mit.edu	37	11	7064318	7064318	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:7064318G>A	ENST00000299481.4	+	4	1407	c.1061G>A	c.(1060-1062)aGt>aAt	p.S354N		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	354	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AAAGTATTCAGTTCACTAAAA	0.438000													17	33					0	0	1	0	0
MS4A8	83661	broad.mit.edu	37	11	60476255	60476255	+	Splice_Site	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:60476255G>T	ENST00000300226.2	+	5	737		c.e5+1			NM_031457.1	NP_113645.1			membrane-spanning 4-domains, subfamily A, member 8																		CTGGGGTGTGGTGAGTATCCC	0.458000													12	36					2.27111e-07	3.0652e-07	1	1	0
VWCE	220001	broad.mit.edu	37	11	61048400	61048400	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:61048400C>A	ENST00000335613.5	-	8	1481	c.1095G>T	c.(1093-1095)atG>atT	p.M365I		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	365						extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AAGGGGTCCCCATCACCTCCC	0.677000													10	11					2.52707e-12	4.09852e-12	1	1	0
TNR	7143	broad.mit.edu	37	1	175304848	175304848	+	Splice_Site	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:175304848C>A	ENST00000367674.1	-	20	4338	c.3631_splice	c.e20+1	p.L1210_splice	TNR_ENST00000263525.2_Splice_Site_p.L1210_splice	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	1210	Fibrinogen C-terminal.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.L1210L(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AGGCTTTACCCAGCCAGAACT	0.468000													8	49					1.12685e-05	1.38035e-05	1	1	0
PKD1	5310	broad.mit.edu	37	16	2158457	2158457	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr16:2158457C>A	ENST00000262304.4	-	15	6919	c.6711G>T	c.(6709-6711)ggG>ggT	p.G2237G	PKD1_ENST00000423118.1_Silent_p.G2237G	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2237	REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GTGGCGTGTCCCCAAATGACA	0.657000													33	66					1.30897e-18	2.39587e-18	1	1	0
ECH1	1891	broad.mit.edu	37	19	39322147	39322147	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:39322147C>A	ENST00000221418.4	-	2	294	c.62G>T	c.(61-63)gGc>gTc	p.G21V	AC104534.3_ENST00000594769.1_Missense_Mutation_p.A191S|ECH1_ENST00000597805.1_Intron	NM_001398.2	NP_001389.2			enoyl CoA hydratase 1, peroxisomal											cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6	all_cancers(60;9.36e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GTAGTTGGAGCCTGTCAGTCC	0.577000													12	32					3.07112e-06	3.87684e-06	1	1	0
PCLO	27445	broad.mit.edu	37	7	82474649	82474649	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:82474649C>A	ENST00000423517.2	-	13	14321	c.13984G>T	c.(13984-13986)Gtt>Ttt	p.V4662F	PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000333891.8_Missense_Mutation_p.V4662F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4550	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						GGGCTGGGAACGGAACTGGAT	0.512000													9	17					3.09899e-07	4.1471e-07	1	1	0
ARHGAP36	158763	broad.mit.edu	37	X	130217848	130217848	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chrX:130217848G>T	ENST00000276211.5	+	4	805	c.460G>T	c.(460-462)Gtg>Ttg	p.V154L	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.V142L|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.V18L	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	154	Arg-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.V154M(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TCGGGGAAACGTGGTGCGAAG	0.632000													49	68					1.48734e-19	2.74257e-19	1	1	0
DAO	1610	broad.mit.edu	37	12	109294187	109294187	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:109294187A>G	ENST00000228476.3	+	11	1124	c.920A>G	c.(919-921)cAc>cGc	p.H307R	DAO_ENST00000551281.1_Missense_Mutation_p.H241R	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	307					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						TAGGTCATCCACAACTATGGC	0.552000													37	83					0	0	1	0	0
SDR9C7	121214	broad.mit.edu	37	12	57317625	57317625	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:57317625T>A	ENST00000293502.1	-	4	1077	c.934A>T	c.(934-936)Agt>Tgt	p.S312C		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	312						cytoplasm	binding|oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						GTTTAGACACTGTCCGCTGGC	0.567000													48	62					0	0	1	0	0
KNTC1	9735	broad.mit.edu	37	12	123087622	123087622	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:123087622A>T	ENST00000333479.7	+	48	5110	c.4933A>T	c.(4933-4935)Aaa>Taa	p.K1645*	KNTC1_ENST00000537348.1_Nonsense_Mutation_p.K70*|KNTC1_ENST00000436959.3_5'UTR|KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1645					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CGTTTTCGAAAAAAAACTGAA	0.388000													3	10					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192697	132192697	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:132192697G>T	ENST00000359827.3	-	2	1718	c.756C>A	c.(754-756)aaC>aaA	p.N252K	PLXNA4_ENST00000378539.5_Missense_Mutation_p.N252K|PLXNA4_ENST00000321063.4_Missense_Mutation_p.N252K|PLXNA4_ENST00000423507.2_Missense_Mutation_p.N252K			Q9HCM2	PLXA4_HUMAN	plexin A4	252	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AGTAGACAAAGTTGCCACTGC	0.483000													13	88					2.27111e-07	3.0652e-07	1	1	0
SH2D2A	9047	broad.mit.edu	37	1	156784878	156784878	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:156784878G>T	ENST00000392306.2	-	3	398	c.259C>A	c.(259-261)Ctg>Atg	p.L87M	SH2D2A_ENST00000495306.1_5'UTR|SH2D2A_ENST00000368199.3_Missense_Mutation_p.L87M|SH2D2A_ENST00000368198.3_Missense_Mutation_p.L69M	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	87					angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCGTGCTGCAGGAGCCAGTGG	0.642000													10	31					6.40141e-05	7.56927e-05	1	1	0
H2AFX	3014	broad.mit.edu	37	11	118965794	118965794	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:118965794G>T	ENST00000530167.1	-	1	383	c.311C>A	c.(310-312)gCc>gAc	p.A104D		NM_002105.2	NP_002096.1	P16104	H2AX_HUMAN	H2A histone family, member X	104					DNA damage checkpoint|double-strand break repair via homologous recombination|meiosis|nucleosome assembly|positive regulation of DNA repair|response to ionizing radiation	nucleoplasm|nucleosome	DNA binding|enzyme binding|histone binding			lung(3)	3	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		GCCTCCCTGGGCGATCGTCAC	0.687000								Chromatin Structure			OREG0021395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	62	86					2.43698e-19	4.48035e-19	1	1	0
C16orf91	283951	broad.mit.edu	37	16	1479206	1479206	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr16:1479206G>A	ENST00000310355.1	-	1	139	c.140C>T	c.(139-141)gCc>gTc	p.A47V				Q4G0I0	CSMT1_HUMAN	chromosome 16 open reading frame 91	0						integral to membrane				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						GCTCACCGGGGCGTCGGCTCG	0.652000													25	127					0	0	1	0	0
SYT8	90019	broad.mit.edu	37	11	1858197	1858197	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:1858197G>T	ENST00000341958.3	+	7	1103	c.801G>T	c.(799-801)gtG>gtT	p.V267V	SYT8_ENST00000535046.1_3'UTR|SYT8_ENST00000381968.3_Silent_p.V281V			Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	281	C2 2.					acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGCCCTACGTGAAGGTCCAGC	0.617000													18	38					6.94344e-10	1.04785e-09	1	1	0
BRWD1	54014	broad.mit.edu	37	21	40601363	40601363	+	Splice_Site	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr21:40601363C>A	ENST00000342449.3	-	26	3079		c.e26-1		BRWD1_ENST00000333229.2_Splice_Site|BRWD1_ENST00000380800.3_Splice_Site	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ATTCTTGATCCTTTAACAGAC	0.313000													4	5					0.00909568	0.00962192	1	1	0
EPPK1	83481	broad.mit.edu	37	8	144946590	144946590	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:144946590G>A	ENST00000525985.1	-	2	903	c.832C>T	c.(832-834)Cgg>Tgg	p.R278W				P58107	EPIPL_HUMAN	epiplakin 1	278						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGGTAGCGCCGCACCTCGGCA	0.682000													9	56					0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83931831	83931831	+	Silent	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr15:83931831G>A	ENST00000345382.2	-	4	2257	c.2172C>T	c.(2170-2172)atC>atT	p.I724I	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Silent_p.I717I	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	724					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TCTTCTTGCAGATGTCACACT	0.413000													8	29					0	0	1	0	0
LRRC16A	55604	broad.mit.edu	37	6	25610289	25610289	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:25610289G>T	ENST00000329474.6	+	36	4227	c.3859G>T	c.(3859-3861)Gac>Tac	p.D1287Y		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1287					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						TGACATTCCAGACTCTCCATC	0.443000													13	44					0.0202918	0.021233	1	1	0
BRD8	10902	broad.mit.edu	37	5	137488375	137488375	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:137488375C>A	ENST00000254900.5	-	21	3023	c.2652G>T	c.(2650-2652)agG>agT	p.R884S		NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	884					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGAAGAGGGACCTGCAGTCAT	0.507000													58	70					1.67886e-27	3.32897e-27	1	1	0
MUC16	94025	broad.mit.edu	37	19	9011442	9011442	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:9011442G>T	ENST00000397910.4	-	36	38994	c.38791C>A	c.(38791-38793)Ctt>Att	p.L12931I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12933	SEA 6.				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						TTGGGGTCAAGACGGTGGCTG	0.562000													42	180					4.92203e-23	9.4366e-23	1	1	0
MRPL13	28998	broad.mit.edu	37	8	121444300	121444300	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:121444300C>A	ENST00000306185.3	-	3	506	c.215G>T	c.(214-216)tGg>tTg	p.W72L		NM_014078.5	NP_054797.2	Q9BYD1	RM13_HUMAN	mitochondrial ribosomal protein L13	72					translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	6	Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TTTTTGTTCCCATTTGTTTCC	0.308000													15	34					7.93312e-07	1.03608e-06	1	1	0
TRBV7-7	28591	broad.mit.edu	37	7	142120009	142120009	+	RNA	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:142120009C>A	ENST00000390377.1	-	0	157																											CTGTTGATACCAATAAAGGGT	0.507000													13	60					0.00136819	0.00149657	1	1	0
CACNA1G	8913	broad.mit.edu	37	17	48696027	48696027	+	Silent	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:48696027G>A	ENST00000352832.5	+	31	5709	c.5337G>A	c.(5335-5337)cgG>cgA	p.R1779R	CACNA1G_ENST00000502264.1_Silent_p.R1790R|CACNA1G_ENST00000515165.1_Silent_p.R1813R|CACNA1G_ENST00000510366.1_Silent_p.R1761R|CACNA1G_ENST00000512389.1_Silent_p.R1802R|CACNA1G_ENST00000360761.4_Silent_p.R1790R|CACNA1G_ENST00000513689.2_Silent_p.R1768R|CACNA1G_ENST00000359106.5_Silent_p.R1813R|CACNA1G_ENST00000358244.5_Silent_p.R1779R|CACNA1G_ENST00000354983.4_Silent_p.R1779R|CACNA1G_ENST00000442258.2_Silent_p.R1772R|CACNA1G_ENST00000515411.1_Silent_p.R1795R|CACNA1G_ENST00000510115.1_Silent_p.R1779R|CACNA1G_ENST00000507896.1_Silent_p.R1802R|CACNA1G_ENST00000514717.1_Silent_p.R1756R|CACNA1G_ENST00000505165.1_Silent_p.R1813R|CACNA1G_ENST00000507510.2_Silent_p.R1813R|CACNA1G_ENST00000429973.2_Silent_p.R1795R|CACNA1G_ENST00000514181.1_Silent_p.R1788R|CACNA1G_ENST00000514079.1_Silent_p.R1820R|CACNA1G_ENST00000513964.1_Silent_p.R1768R|CACNA1G_ENST00000515765.1_Silent_p.R1802R|CACNA1G_ENST00000507609.1_Silent_p.R1806R|CACNA1G_ENST00000503485.1_Silent_p.R1779R|CACNA1G_ENST00000507336.1_Silent_p.R1802R	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1813					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	ACACCCTCCGGGACTGTGACC	0.562000													21	47					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	177133713	177133713	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:177133713C>G	ENST00000367654.2	-	1	113	c.100G>C	c.(100-102)Gag>Cag	p.E34Q	ASTN1_ENST00000361833.2_Missense_Mutation_p.E34Q|ASTN1_ENST00000424564.2_Missense_Mutation_p.E34Q|ASTN1_ENST00000367657.3_Missense_Mutation_p.E34Q|ASTN1_ENST00000281881.3_5'UTR			O14525	ASTN1_HUMAN	astrotactin 1	34					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						AGCTTGCACTCCAGCTCCTTG	0.682000													14	34					0	0	1	0	0
LIPF	8513	broad.mit.edu	37	10	90438339	90438339	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:90438339G>C	ENST00000394375.3	+	11	1241	c.1128G>C	c.(1126-1128)gaG>gaC	p.E376D	LIPF_ENST00000238983.4_Missense_Mutation_p.E366D|LIPF_ENST00000355843.2_Missense_Mutation_p.E333D	NM_001198829.1	NP_001185758.1	P07098	LIPG_HUMAN	lipase, gastric	366					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		ACCACAAGGAGATTCCTTTTT	0.418000													20	40					0	0	1	0	0
BCAS3	54828	broad.mit.edu	37	17	59445780	59445780	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:59445780G>A	ENST00000589222.1	+	23	2586	c.2518G>A	c.(2518-2520)Gag>Aag	p.E840K	RP11-332H18.5_ENST00000585765.1_RNA|BCAS3_ENST00000588462.1_Missense_Mutation_p.E855K|BCAS3_ENST00000588874.1_Missense_Mutation_p.E611K|BCAS3_ENST00000407086.3_Missense_Mutation_p.E840K|BCAS3_ENST00000585744.1_Missense_Mutation_p.E626K|BCAS3_ENST00000585812.1_3'UTR|BCAS3_ENST00000408905.3_Missense_Mutation_p.E840K|BCAS3_ENST00000390652.5_Missense_Mutation_p.E855K			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	855						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			GGAGCACACGGAGGAGGGCCT	0.642000													16	124					0	0	1	0	0
XPO4	64328	broad.mit.edu	37	13	21476838	21476838	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr13:21476838G>A	ENST00000400602.2	-	1	75	c.40C>T	c.(40-42)Cag>Tag	p.Q14*	XPO4_ENST00000490513.1_5'UTR|XPO4_ENST00000255305.6_Nonsense_Mutation_p.Q14*	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4	14					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TTCTCCAGCTGAGCGATCACT	0.697000													5	5					0	0	1	0	0
PKP4	8502	broad.mit.edu	37	2	159488309	159488309	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:159488309G>C	ENST00000389757.3	+	8	1323	c.1198G>C	c.(1198-1200)Gac>Cac	p.D400H	PKP4_ENST00000389759.3_Missense_Mutation_p.D400H	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	400					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						GCTTGGGCAAGACCTTCGTTC	0.473000										HNSCC(62;0.18)			34	43					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1270338	1270338	+	Silent	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:1270338C>G	ENST00000447027.1	+	31	12295	c.12237C>G	c.(12235-12237)acC>acG	p.T4079T	MUC5B_ENST00000529681.1_Silent_p.T4076T|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4076	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCAGGACCACCGAGTCACCCC	0.697000													34	101					0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15302575	15302575	+	Silent	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:15302575C>T	ENST00000263388.2	-	5	858	c.783G>A	c.(781-783)caG>caA	p.Q261Q		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	261	EGF-like 6; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CAGGAGGGCACTGGCAGTTAT	0.612000													11	66					0	0	1	0	0
FEZF1	389549	broad.mit.edu	37	7	121943978	121943978	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:121943978G>A	ENST00000442488.2	-	1	581	c.514C>T	c.(514-516)Ccg>Tcg	p.P172S	FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000331178.4_Missense_Mutation_p.P172S|FEZF1_ENST00000427185.2_Intron	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	172					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						CCGGCTGCCGGGTGGCATGGG	0.587000													7	37					0	0	1	0	0
LTF	4057	broad.mit.edu	37	3	46501187	46501187	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:46501187T>C	ENST00000231751.4	-	2	461	c.166A>G	c.(166-168)Ata>Gta	p.I56V	LTF_ENST00000426532.2_Missense_Mutation_p.I12V|LTF_ENST00000417439.1_Missense_Mutation_p.I56V	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	56	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	TCTCTCTTTATGCAGCTGACA	0.537000													10	39					0	0	1	0	0
TTC6	319089	broad.mit.edu	37	14	38295535	38295535	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr14:38295535A>G	ENST00000553443.1	+	28	5110	c.5110A>G	c.(5110-5112)Att>Gtt	p.I1704V	TTC6_ENST00000382320.3_Missense_Mutation_p.I418V|TTC6_ENST00000267368.7_Missense_Mutation_p.I338V|TTC6_ENST00000476979.1_Missense_Mutation_p.I338V					tetratricopeptide repeat domain 6											central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		AATGCAGGATATTAATGCTGC	0.358000													5	22					0	0	1	0	0
TMPRSS11A	339967	broad.mit.edu	37	4	68784890	68784890	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr4:68784890C>A	ENST00000508048.1	-	8	785	c.750G>T	c.(748-750)atG>atT	p.M250I	RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000396188.2_Missense_Mutation_p.M251I|TMPRSS11A_ENST00000334830.7_Missense_Mutation_p.M254I			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	254	Peptidase S1.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						CATTTCTTTTCATTAAGGGAG	0.373000													19	16					1.33834e-09	1.99544e-09	1	1	0
INSC	387755	broad.mit.edu	37	11	15267457	15267457	+	Splice_Site	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:15267457G>T	ENST00000379554.3	+	13	1657		c.e13-1		INSC_ENST00000447214.2_Splice_Site|INSC_ENST00000528567.1_Splice_Site|INSC_ENST00000379556.3_Splice_Site|INSC_ENST00000530161.1_Splice_Site|INSC_ENST00000525218.1_Splice_Site|INSC_ENST00000424273.1_Splice_Site	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)						cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						CTTCTCCCCAGGCTGCTCTGC	0.542000													25	52					1.33986e-20	2.51333e-20	1	1	0
KRT5	3852	broad.mit.edu	37	12	52908754	52908754	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:52908754G>T	ENST00000252242.4	-	9	2135	c.1745C>A	c.(1744-1746)tCc>tAc	p.S582Y		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	582	Ser-rich.|Tail.				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)		CCGGGAGGAGGAGGTGGTGGA	0.602000													28	55					1.26454e-06	1.64779e-06	1	1	0
SPATA31C1	441452	broad.mit.edu	37	9	90535460	90535460	+	RNA	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:90535460C>A	ENST00000602681.1	+	0	1364																											CCCGAGCCACCTGCACTTTTC	0.627000													175	219					7.27513e-60	1.50798e-59	1	1	0
SYT5	6861	broad.mit.edu	37	19	55685987	55685987	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:55685987G>T	ENST00000354308.3	-	8	1227	c.858C>A	c.(856-858)ggC>ggA	p.G286G	SYT5_ENST00000590851.1_Silent_p.G282G|CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000537500.1_Silent_p.G286G	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	286	C2 2.				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CCTTTTTGCCGCCCTGCAGCA	0.522000													13	79					5.50884e-06	6.85448e-06	1	1	0
NLRP12	91662	broad.mit.edu	37	19	54313572	54313572	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:54313572C>A	ENST00000324134.6	-	3	1509	c.1341G>T	c.(1339-1341)ccG>ccT	p.P447P	NLRP12_ENST00000351894.4_Silent_p.P447P|NLRP12_ENST00000391772.1_Silent_p.P447P|NLRP12_ENST00000391773.1_Silent_p.P447P|NLRP12_ENST00000345770.5_Silent_p.P447P|NLRP12_ENST00000391775.3_Silent_p.P447P|NLRP12_ENST00000535162.1_Silent_p.P447P|NLRP12_ENST00000354278.3_Silent_p.P447P	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	447	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GCGGGGCCCCCGGCTTGGGTT	0.617000													87	105					4.869e-31	9.75485e-31	1	1	0
CDH9	1007	broad.mit.edu	37	5	26885803	26885803	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:26885803G>T	ENST00000231021.4	-	11	1974	c.1802C>A	c.(1801-1803)aCc>aAc	p.T601N		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	601	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GGCTTCTGCGGTGCAGGATTG	0.488000													8	48					0.00307968	0.00331849	1	1	0
TNNI3K	51086	broad.mit.edu	37	1	74954897	74954897	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:74954897G>T	ENST00000370891.2	+	24	2465	c.2449G>T	c.(2449-2451)Gtc>Ttc	p.V817F	TNNI3K_ENST00000326637.3_Missense_Mutation_p.V716F|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.V817F|LRRC53_ENST00000294635.4_Intron	NM_001112808.2	NP_001106279.1			TNNI3 interacting kinase											cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						TTCTGAAGTTGTCATGAAGTT	0.368000													4	21					0.00909568	0.00962192	1	1	0
MIR520A	574467	broad.mit.edu	37	19	54194135	54194135	+	RNA	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:54194135C>G	ENST00000384862.1	+	0	1					NR_030189.1																						GCAAGAAGATCTCAGGCTGTG	0.438000													9	47					0	0	1	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21331589	21331589	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:21331589C>A	ENST00000256958.2	+	6	657	c.561C>A	c.(559-561)ccC>ccA	p.P187P		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	187					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)	GGGAGACTCCCATAGTACCAT	0.353000													5	29					5.9392e-07	7.8691e-07	1	1	0
SYT16	83851	broad.mit.edu	37	14	62567417	62567417	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr14:62567417G>T	ENST00000430451.2	+	6	2127	c.1930G>T	c.(1930-1932)Gaa>Taa	p.E644*		NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	644										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		CACTTTGCTGGAATCCTAGGT	0.517000													3	21					0.115264	0.117981	1	1	0
PCDHB18P	54660	broad.mit.edu	37	5	140616313	140616313	+	RNA	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:140616313G>T	ENST00000526308.1	+	0	2376					NR_001281.1															endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						CGGTGCCCGAGTGTCCCTTTC	0.647000													108	121					3.01496e-42	6.16841e-42	1	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125175058	125175058	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:125175058C>A	ENST00000431078.1	+	4	784	c.420C>A	c.(418-420)caC>caA	p.H140Q		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	140	F5/8 type C.				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)		GCGTGGTGCACCACAAGCTAT	0.502000													5	16					0.000602214	0.000671403	1	1	0
TDP1	55775	broad.mit.edu	37	14	90455387	90455387	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr14:90455387G>C	ENST00000335725.4	+	11	1520	c.1270G>C	c.(1270-1272)Ggg>Cgg	p.G424R	TDP1_ENST00000393454.2_Missense_Mutation_p.G424R|TDP1_ENST00000393452.3_Missense_Mutation_p.G424R|TDP1_ENST00000555880.1_Missense_Mutation_p.G424R|TDP1_ENST00000357382.3_Missense_Mutation_p.G185R	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	424					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		GCTGACACTGGGGAAGGAAAG	0.458000								Repair of DNA-protein crosslinks					7	36					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167328884	167328884	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:167328884G>T	ENST00000409855.1	-	5	641	c.515C>A	c.(514-516)tCa>tAa	p.S172*		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	172					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.S172L(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						GAAGGAAAATGATCCTGCCCA	0.343000													4	8					0.184627	0.186887	1	1	0
LSAMP	4045	broad.mit.edu	37	3	115560807	115560807	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:115560807G>C	ENST00000490035.1	-	6	1303	c.804C>G	c.(802-804)agC>agG	p.S268R	LSAMP_ENST00000498645.1_5'UTR|LSAMP_ENST00000539563.1_Missense_Mutation_p.S265R	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	268	Ig-like C2-type 3.				cell adhesion|nervous system development	anchored to membrane|plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		GGCCCTCCGTGCTCTTAATCT	0.483000													24	62					0	0	1	0	0
IRX1	79192	broad.mit.edu	37	5	3599660	3599660	+	Missense_Mutation	SNP	C	C	A	rs143830823	byFrequency	TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:3599660C>A	ENST00000302006.3	+	2	650	c.598C>A	c.(598-600)Cag>Aag	p.Q200K	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	200						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CAGCAAGGACCAGGAAGATGG	0.622000													45	85					1.22674e-20	2.30612e-20	1	1	0
DNAH2	146754	broad.mit.edu	37	17	7669696	7669696	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:7669696C>A	ENST00000572933.1	+	22	5032	c.3572C>A	c.(3571-3573)gCc>gAc	p.A1191D	DNAH2_ENST00000389173.2_Missense_Mutation_p.A1191D			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1191	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.A1191G(1)		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)				CAAGTGCGGGCCATGCTGATG	0.552000													49	26					2.13384e-23	4.10009e-23	1	1	0
EXOSC1	51013	broad.mit.edu	37	10	99198450	99198450	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:99198450C>T	ENST00000370902.3	-	5	353	c.322G>A	c.(322-324)Gtc>Atc	p.V108I	EXOSC1_ENST00000471049.1_5'UTR|EXOSC1_ENST00000485122.2_Missense_Mutation_p.V108I|EXOSC1_ENST00000370885.4_Missense_Mutation_p.V83I|EXOSC1_ENST00000370886.5_Missense_Mutation_p.V108I	NM_016046.3	NP_057130.1	Q9Y3B2	EXOS1_HUMAN	exosome component 1	108	S1 motif.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	protein binding|RNA binding			breast(1)|endometrium(1)|lung(5)	7		Renal(717;0.000147)|Colorectal(252;0.00205)|Ovarian(717;0.00965)		all cancers(201;8.29e-42)|Epithelial(162;5.7e-33)|BRCA - Breast invasive adenocarcinoma(275;0.000315)|Kidney(138;0.000832)|KIRC - Kidney renal clear cell carcinoma(50;0.00269)|STAD - Stomach adenocarcinoma(243;0.202)		GTTGCTCGGACATCTTCCTTG	0.338000													56	160					0	0	1	0	0
CEP135	9662	broad.mit.edu	37	4	56847392	56847392	+	Splice_Site	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr4:56847392G>T	ENST00000257287.4	+	13	1750		c.e13-1			NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa						centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					CATTCTTTAAGGCTCAGGAAG	0.313000													8	11					1.06961e-07	1.46871e-07	1	1	0
PKD1	5310	broad.mit.edu	37	16	2152079	2152079	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr16:2152079C>A	ENST00000262304.4	-	26	9588	c.9380G>T	c.(9379-9381)gGc>gTc	p.G3127V	PKD1_ENST00000423118.1_Missense_Mutation_p.G3127V	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3127	PLAT.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCGGCCCCAGCCTGTCTTGAC	0.677000													9	8					0.000274275	0.000310774	1	1	0
TRIP13	9319	broad.mit.edu	37	5	895026	895026	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:895026G>C	ENST00000166345.3	+	2	573	c.217G>C	c.(217-219)Gtg>Ctg	p.V73L		NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	73					double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			TGTGCAGTCTGTGTCTATTAT	0.368000													5	21					0	0	1	0	0
AHSA1	10598	broad.mit.edu	37	14	77935577	77935577	+	Silent	SNP	C	C	T	rs111662785		TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr14:77935577C>T	ENST00000216479.3	+	9	1162	c.1002C>T	c.(1000-1002)ggC>ggT	p.G334G	AHSA1_ENST00000555457.1_3'UTR	NM_012111.2	NP_036243.1	O95433	AHSA1_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)	334					protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding			endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		TTGGCTATGGCGCACGCTTAT	0.592000													29	149					0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56692697	56692697	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:56692697C>T	ENST00000389934.3	-	8	894	c.777G>A	c.(775-777)tgG>tgA	p.W259*	TEX14_ENST00000240361.8_Nonsense_Mutation_p.W265*|TEX14_ENST00000349033.5_Nonsense_Mutation_p.W259*	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	265	Protein kinase.					cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGCTCCCATTCCACACTAGGC	0.517000													50	91					0	0	1	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43531197	43531197	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:43531197C>A	ENST00000430334.3	-	7	2154	c.2021G>T	c.(2020-2022)tGg>tTg	p.W674L	AC091132.1_ENST00000433601.1_RNA|PLEKHM1_ENST00000421073.2_Missense_Mutation_p.W585L	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	674					intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					GGCGGACGACCAGTCAAACTG	0.617000													58	123					4.32865e-36	8.78372e-36	1	1	0
DEFB115	245929	broad.mit.edu	37	20	29845479	29845479	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr20:29845479C>A	ENST00000400552.1	+	1	13	c.13C>A	c.(13-15)Cat>Aat	p.H5N		NM_001037730.1	NP_001032819.1	Q30KQ5	DB115_HUMAN	defensin, beta 115	5					defense response to bacterium	extracellular region				kidney(1)|lung(3)|ovary(1)|skin(1)	6			Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347)			GCTGCCAGATCATTTCTCACC	0.502000													7	31					0.00198382	0.00215368	1	1	0
ADCY5	111	broad.mit.edu	37	3	123046597	123046597	+	Silent	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:123046597G>A	ENST00000462833.1	-	7	3027	c.1815C>T	c.(1813-1815)caC>caT	p.H605H	ADCY5_ENST00000309879.5_Silent_p.H255H|ADCY5_ENST00000491190.1_Silent_p.H238H	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	605					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CCTTGGTGATGTGGATGCGTC	0.552000													21	48					0	0	1	0	0
DBR1	51163	broad.mit.edu	37	3	137881117	137881117	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:137881117C>A	ENST00000260803.4	-	8	1402	c.1249G>T	c.(1249-1251)Gac>Tac	p.D417Y	DBR1_ENST00000505015.2_Missense_Mutation_p.D183Y	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	417						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						GCAGATGTGTCTGTATTATAT	0.378000													11	25					4.68919e-08	6.56865e-08	1	1	0
IGKV2D-30	28881	broad.mit.edu	37	2	89976320	89976320	+	RNA	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:89976320G>T	ENST00000474213.1	+	0	226																											TTTCAGCAGAGGCCAGGCCAA	0.532000													29	94					5.71845e-15	9.80548e-15	1	1	0
VSIG10	54621	broad.mit.edu	37	12	118520236	118520236	+	Splice_Site	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:118520236T>A	ENST00000359236.5	-	3	638		c.e3-2		VSIG10_ENST00000536905.1_Splice_Site	NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10							integral to membrane				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						AGGGGCCGCCTGGGGATGACA	0.517000													28	48					0	0	1	0	0
MIR323A	442897	broad.mit.edu	37	14	101492129	101492129	+	RNA	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr14:101492129G>T	ENST00000362199.1	+	0	61					NR_029890.1																						CACATTACACGGTCGACCTCT	0.572000													44	70					6.5261e-18	1.18205e-17	1	1	0
LHFPL5	222662	broad.mit.edu	37	6	35773495	35773495	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:35773495C>A	ENST00000360215.1	+	1	425	c.48C>A	c.(46-48)acC>acA	p.T16T	LHFPL5_ENST00000373853.1_Silent_p.T16T	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	16						integral to membrane				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						TCTACCATACCAACTATGTGC	0.617000													20	142					1.00905e-13	1.69508e-13	1	1	0
GNB5	10681	broad.mit.edu	37	15	52472025	52472025	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr15:52472025C>A	ENST00000261837.7	-	3	243	c.178G>T	c.(178-180)Gag>Tag	p.E60*	GNB5_ENST00000560116.1_Nonsense_Mutation_p.E18*|GNB5_ENST00000396335.4_Nonsense_Mutation_p.E18*|GNB5_ENST00000358784.7_Nonsense_Mutation_p.E18*	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	60						heterotrimeric G-protein complex	GTPase activity|signal transducer activity			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		CTCTCGGCCTCGCTCTTCAGC	0.701000													3	3					0.00024832	0.000283026	1	1	0
TGM6	343641	broad.mit.edu	37	20	2411160	2411160	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr20:2411160C>A	ENST00000202625.2	+	11	1808	c.1747C>A	c.(1747-1749)Ctg>Atg	p.L583M	TGM6_ENST00000381423.1_Missense_Mutation_p.L583M	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	583					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CAAGAAGATCCTGTTGGCTGC	0.473000													36	16					1.836e-18	3.34642e-18	1	1	0
SIX3	6496	broad.mit.edu	37	2	45169427	45169427	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:45169427G>T	ENST00000260653.3	+	1	526	c.184G>T	c.(184-186)Gca>Tca	p.A62S		NM_005413.3	NP_005404.1	O95343	SIX3_HUMAN	SIX homeobox 3	62	Poly-Gly.				visual perception	nucleus				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				tgctggcggagcaggcggcgg	0.776000													5	3					0.184627	0.186887	1	1	0
LRP2	4036	broad.mit.edu	37	2	170062692	170062692	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:170062692C>A	ENST00000263816.3	-	40	7682	c.7397G>T	c.(7396-7398)gGg>gTg	p.G2466V		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2466					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)	ATCAGCAGTCCCTATACCTGG	0.423000													7	29					0.000157383	0.000181765	1	1	0
CCL7	6354	broad.mit.edu	37	17	32597377	32597377	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:32597377C>T	ENST00000378569.2	+	1	138	c.68C>T	c.(67-69)gCt>gTt	p.A23V	CCL7_ENST00000394630.3_Missense_Mutation_p.A23V|CCL7_ENST00000394627.1_Missense_Mutation_p.A23V|CCL7_ENST00000200307.4_Missense_Mutation_p.A33V	NM_006273.2	NP_006264.2	P80098	CCL7_HUMAN	chemokine (C-C motif) ligand 7	23					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		CAGGGGCTTGCTCAGCCAGGT	0.562000													27	50					0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125877392	125877392	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:125877392T>A	ENST00000393434.2	-	3	567	c.218A>T	c.(217-219)tAc>tTc	p.Y73F	ALDH1L1_ENST00000393431.2_Missense_Mutation_p.Y73F|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.Y83F|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.Y73F|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.Y73F|ALDH1L1_ENST00000455064.2_Intron	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	73	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CAAAGCCTGGTATTTTGCCAC	0.567000													40	120					0	0	1	0	0
MOV10	4343	broad.mit.edu	37	1	113235502	113235502	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:113235502C>A	ENST00000369644.1	+	8	1952	c.923C>A	c.(922-924)cCc>cAc	p.P308H	MOV10_ENST00000413052.2_Missense_Mutation_p.P364H|MOV10_ENST00000357443.2_Missense_Mutation_p.P364H|MOV10_ENST00000369645.1_Missense_Mutation_p.P364H|MOV10_ENST00000468624.1_3'UTR			Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog (mouse)	364					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		GAGTCGGTGCCCATGACCTGG	0.597000													16	11					3.45872e-05	4.1634e-05	1	1	0
SMARCA2	6595	broad.mit.edu	37	9	2123856	2123856	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:2123856G>T	ENST00000382203.1	+	27	4109	c.3900G>T	c.(3898-3900)gaG>gaT	p.E1300D	SMARCA2_ENST00000357248.2_Missense_Mutation_p.E1300D|SMARCA2_ENST00000382194.1_Missense_Mutation_p.E1300D|SMARCA2_ENST00000349721.2_Missense_Mutation_p.E1300D			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1300	Poly-Glu.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		AAGAAGAGGAGGAGAAAATAT	0.542000													3	13					1	1	1	1	0
PRKAR2B	5577	broad.mit.edu	37	7	106797751	106797751	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:106797751G>T	ENST00000265717.4	+	10	1364	c.1105G>T	c.(1105-1107)Ggg>Tgg	p.G369W		NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta	369					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						CCACGCCATTGGGACTGTCAA	0.473000													6	34					0.00116845	0.00128212	1	1	0
EPX	8288	broad.mit.edu	37	17	56276478	56276478	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:56276478A>T	ENST00000225371.5	+	8	1308	c.1198A>T	c.(1198-1200)Acc>Tcc	p.T400S		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	400					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						CCGGCTGGCCACCGAGCTGAG	0.562000													7	79					0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23803479	23803479	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr4:23803479G>T	ENST00000264867.2	-	12	2286	c.2167C>A	c.(2167-2169)Cgt>Agt	p.R723S	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	723	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)				CAGGTATAACGGTAGGTAATG	0.403000													3	6					6.4e-05	7.56927e-05	1	1	0
FSHR	2492	broad.mit.edu	37	2	49195956	49195956	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:49195956C>A	ENST00000406846.2	-	9	854	c.735G>T	c.(733-735)agG>agT	p.R245S	FSHR_ENST00000304421.4_Missense_Mutation_p.R219S|FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000541117.1_5'UTR|FSHR_ENST00000346173.3_Intron	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	245					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TCGACCTGGCCCTCAGCTTCT	0.438000									Gonadal Dysgenesis, 46 XX				5	37					0.184627	0.186887	1	1	0
ZNF831	128611	broad.mit.edu	37	20	57829460	57829460	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr20:57829460C>T	ENST00000371030.2	+	5	4696	c.4696C>T	c.(4696-4698)Cat>Tat	p.H1566Y		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1566						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGAAAAAACTCATCTTGAAAT	0.483000													22	11					0	0	1	0	0
TOPBP1	11073	broad.mit.edu	37	3	133368281	133368281	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:133368281C>A	ENST00000260810.5	-	10	1581	c.1450G>T	c.(1450-1452)Gag>Tag	p.E484*	TOPBP1_ENST00000511439.1_5'UTR	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	484					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TCAGCTTGCTCATGCTTTTCA	0.353000								Other conserved DNA damage response genes					5	27					0.014758	0.0154892	1	1	0
ZFYVE9	9372	broad.mit.edu	37	1	52800421	52800421	+	Silent	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:52800421C>G	ENST00000287727.3	+	15	3823	c.3651C>G	c.(3649-3651)gcC>gcG	p.A1217A	ZFYVE9_ENST00000469134.1_3'UTR|ZFYVE9_ENST00000357206.2_Silent_p.A1158A|ZFYVE9_ENST00000371591.1_Silent_p.A1217A	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	1217					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						GATACCTTGCCAAGTCCAGTA	0.398000													8	17					0	0	1	0	0
ACTL7A	10881	broad.mit.edu	37	9	111625143	111625143	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:111625143G>A	ENST00000333999.3	+	1	541	c.541G>A	c.(541-543)Gag>Aag	p.E181K		NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN	actin-like 7A	181						cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CACCAACAGAGAGAAATATGC	0.537000													34	75					0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	71535338	71535338	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr15:71535338G>T	ENST00000355327.3	+	5	949	c.815G>T	c.(814-816)gGg>gTg	p.G272V	THSD4_ENST00000261862.6_Missense_Mutation_p.G272V			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	272	TSP type-1 1.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CACGGTGTGGGGACCCATGGG	0.557000													19	53					6.94344e-10	1.04785e-09	1	1	0
PRKG2	5593	broad.mit.edu	37	4	82058598	82058598	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr4:82058598A>T	ENST00000395578.1	-	13	1699	c.1583T>A	c.(1582-1584)aTg>aAg	p.M528K	PRKG2_ENST00000545647.1_Missense_Mutation_p.M108K|PRKG2_ENST00000264399.1_Missense_Mutation_p.M528K|PRKG2_ENST00000418486.2_Missense_Mutation_p.M499K|PRKG2_ENST00000509169.1_5'UTR			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	528	Protein kinase.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						CTCCAGAAGCATGTATACATA	0.348000													10	9					0	0	1	0	0
HUS1B	135458	broad.mit.edu	37	6	656766	656766	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:656766T>A	ENST00000380907.2	-	1	197	c.179A>T	c.(178-180)cAg>cTg	p.Q60L	EXOC2_ENST00000448181.3_Intron|EXOC2_ENST00000230449.4_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	60										endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		GAAGGCCCCCTGCCGCACCTC	0.692000													5	27					0	0	1	0	0
DDX21	9188	broad.mit.edu	37	10	70719742	70719742	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:70719742C>G	ENST00000354185.4	+	2	366	c.268C>G	c.(268-270)Cct>Gct	p.P90A		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	90						nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						TGACATTTCTCCTAAAACCAA	0.353000													4	9					0	0	1	0	0
CP	1356	broad.mit.edu	37	3	148930384	148930384	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:148930384G>C	ENST00000264613.6	-	2	510	c.248C>G	c.(247-249)aCt>aGt	p.T83S		NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	83	F5/8 type A 1.|Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TTTTTCTATAGTTGTCCTAAA	0.388000													6	10					0	0	1	0	0
TNRC6A	27327	broad.mit.edu	37	16	24802810	24802810	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr16:24802810A>T	ENST00000395799.3	+	6	2976	c.2847A>T	c.(2845-2847)caA>caT	p.Q949H	TNRC6A_ENST00000315183.7_Missense_Mutation_p.Q949H	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	949	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GGAACAAGCAACAAGACATTG	0.537000													18	30					0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105201669	105201669	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:105201669G>T	ENST00000369797.3	+	31	4738	c.4644G>T	c.(4642-4644)ccG>ccT	p.P1548P		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1548					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)		CTCTGACCCCGGCCTTGCCAC	0.577000													45	45					4.44401e-20	8.24706e-20	1	1	0
KIF12	113220	broad.mit.edu	37	9	116857589	116857589	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:116857589C>A	ENST00000374118.3	-	7	742	c.505G>T	c.(505-507)Gac>Tac	p.D169Y	KIF12_ENST00000473174.1_5'UTR	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	302	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						CGCTGTGGGTCCAGCAGCAGG	0.602000													21	20					7.45023e-12	1.19493e-11	1	1	0
AOAH	313	broad.mit.edu	37	7	36763642	36763642	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:36763642C>A	ENST00000431169.1	-	1	412	c.112G>T	c.(112-114)Ggg>Tgg	p.G38W	AOAH_ENST00000258749.5_Missense_Mutation_p.G38W|AOAH_ENST00000535891.1_Missense_Mutation_p.G38W	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	38	Saposin B-type.				inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						CAGGTGTGCCCATTCGAGAGG	0.448000													10	44					2.17888e-05	2.63559e-05	1	1	0
TIAM1	7074	broad.mit.edu	37	21	32624175	32624175	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr21:32624175C>A	ENST00000286827.3	-	6	1765	c.1294G>T	c.(1294-1296)Ggc>Tgc	p.G432C	TIAM1_ENST00000541036.1_Missense_Mutation_p.G432C|TIAM1_ENST00000469412.1_5'UTR	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	432					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CGCACCGTGCCCTGTGCGGCG	0.662000													56	51					1.73933e-33	3.50896e-33	1	1	0
OR2AG1	144125	broad.mit.edu	37	11	6806467	6806467	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:6806467T>C	ENST00000307401.4	+	1	220	c.199T>C	c.(199-201)Tct>Cct	p.S67P		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGGGCAGCTCTCTCTCATGGA	0.557000													36	119					0	0	1	0	0
MC4R	4160	broad.mit.edu	37	18	58039475	58039475	+	Silent	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr18:58039475A>T	ENST00000299766.3	-	1	526	c.108T>A	c.(106-108)tcT>tcA	p.S36S		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	36			S -> Y (in obesity; shows the same affinity as the wild-type but significant impairment of cAMP-induced activity in response to melanotan II compared with the wild-type receptor).		feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				ACCCTCCATCAGAGTAGCCTT	0.507000													14	19					0	0	1	0	0
ZNF583	147949	broad.mit.edu	37	19	56934737	56934737	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:56934737A>G	ENST00000333201.9	+	5	920	c.710A>G	c.(709-711)gAg>gGg	p.E237G	ZNF583_ENST00000291598.7_Missense_Mutation_p.E237G|ZNF583_ENST00000585612.1_3'UTR	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	237					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		CATACTGGAGAGAAACCCTAT	0.388000													5	16					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197065255	197065255	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:197065255T>C	ENST00000367409.4	-	19	9116	c.8860A>G	c.(8860-8862)Aaa>Gaa	p.K2954E	ASPM_ENST00000294732.7_Missense_Mutation_p.K1369E|ASPM_ENST00000367408.1_Missense_Mutation_p.K619E	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2954	IQ 34.|IQ 35.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GCTTTCACTTTACATAAATAT	0.313000													17	44					0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51412229	51412229	+	Missense_Mutation	SNP	G	G	T	rs142357039		TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:51412229G>T	ENST00000319760.6	-	1	219	c.167C>A	c.(166-168)cCa>cAa	p.P56Q		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	56				GSP -> CSA (in Ref. 1; BAC05754).	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				GAAATACATTGGGGAACCCAA	0.408000													9	10					7.48243e-07	9.81645e-07	1	1	0
GHR	2690	broad.mit.edu	37	5	42718660	42718660	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:42718660G>A	ENST00000230882.4	+	10	1241	c.1051G>A	c.(1051-1053)Gat>Aat	p.D351N	GHR_ENST00000537449.1_Missense_Mutation_p.D164N|GHR_ENST00000513625.1_3'UTR|GHR_ENST00000357703.3_Missense_Mutation_p.D329N	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	351					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GCTAGATATTGATGAGCCAGA	0.413000													19	86					0	0	1	0	0
BOLA1	51027	broad.mit.edu	37	1	149871826	149871826	+	Missense_Mutation	SNP	G	G	C	rs143127218		TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:149871826G>C	ENST00000369153.2	+	3	878	c.214G>C	c.(214-216)Gtg>Ctg	p.V72L	BOLA1_ENST00000369150.1_Missense_Mutation_p.V72L|BOLA1_ENST00000369152.5_Missense_Mutation_p.V72L|BOLA1_ENST00000476344.1_3'UTR			Q9Y3E2	BOLA1_HUMAN	bolA family member 1	72						extracellular region	protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	10	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CCGCGTGGCTGTGGTGAGCTC	0.677000													24	80					0	0	1	0	0
OR6C65	403282	broad.mit.edu	37	12	55794881	55794881	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:55794881C>A	ENST00000379665.2	+	1	668	c.569C>A	c.(568-570)aCa>aAa	p.T190K		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						TGCACAGACACACAGTTTCTA	0.438000													9	101					4.68919e-08	6.56865e-08	1	1	0
SUCLG1	8802	broad.mit.edu	37	2	84670416	84670416	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:84670416C>A	ENST00000393868.2	-	3	520	c.310G>T	c.(310-312)Gtg>Ttg	p.V104L		NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	104					tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	ACCTCCTTCACAGTATTAAAG	0.453000													12	42					0.000151284	0.000176482	1	1	0
C1orf158	93190	broad.mit.edu	37	1	12806406	12806406	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:12806406C>A	ENST00000288048.5	+	1	244	c.28C>A	c.(28-30)Cca>Aca	p.P10T	C1orf158_ENST00000376210.3_Missense_Mutation_p.P10T|C1orf158_ENST00000474179.1_3'UTR	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN	chromosome 1 open reading frame 158	10										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	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;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AAATCCACAGCCACTCTCTAC	0.463000													11	21					9.70103e-10	1.45893e-09	1	1	0
RADIL	55698	broad.mit.edu	37	7	4874508	4874508	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:4874508G>T	ENST00000399583.3	-	4	1333	c.1146C>A	c.(1144-1146)tgC>tgA	p.C382*	RADIL_ENST00000538469.1_Nonsense_Mutation_p.C142*|RADIL_ENST00000536091.1_Nonsense_Mutation_p.C382*	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	382	FHA.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GCGCGGCCCCGCACAGCCGGC	0.751000													3	3					0.115264	0.117981	1	1	0
FAM47C	442444	broad.mit.edu	37	X	37028950	37028950	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chrX:37028950C>A	ENST00000358047.3	+	1	2519	c.2467C>A	c.(2467-2469)Cat>Aat	p.H823N		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	823										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CGGAGCGTCCCATCTAAAAGA	0.537000													24	38					2.89027e-11	4.54746e-11	1	1	0
TTC17	55761	broad.mit.edu	37	11	43511873	43511873	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:43511873C>T	ENST00000039989.4	+	22	3129	c.3115C>T	c.(3115-3117)Cgc>Tgc	p.R1039C		NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	1039							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CGACTGCCTCCGCCAGGCTCT	0.547000													19	48					0	0	1	0	0
B3GNT5	84002	broad.mit.edu	37	3	182988626	182988626	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:182988626G>T	ENST00000326505.3	+	2	1570	c.1040G>T	c.(1039-1041)gGt>gTt	p.G347V	MCF2L2_ENST00000447025.2_Intron|MCF2L2_ENST00000473233.1_Intron|B3GNT5_ENST00000465010.1_Missense_Mutation_p.G347V|MCF2L2_ENST00000328913.3_Intron|B3GNT5_ENST00000460419.1_Missense_Mutation_p.G347V	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	347					central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			ATTTCCAAAGGTTTTTTTGGT	0.353000													12	25					0.010729	0.011336	1	1	0
CCER1	196477	broad.mit.edu	37	12	91348367	91348367	+	Silent	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:91348367C>G	ENST00000358859.2	-	1	586	c.153G>C	c.(151-153)ccG>ccC	p.P51P	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1																		TATATCGGTGCGGTCTATTGT	0.647000													5	47					0	0	1	0	0
CCDC86	79080	broad.mit.edu	37	11	60610098	60610098	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:60610098G>T	ENST00000227520.5	+	1	555	c.501G>T	c.(499-501)caG>caT	p.Q167H	RP11-804A23.2_ENST00000539897.1_RNA|RP11-804A23.4_ENST00000538705.1_RNA	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	167	Pro-rich.				interspecies interaction between organisms	nucleus				endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						ACCCCGGTCAGCAAGCTCCCG	0.682000													29	55					1.75199e-13	2.91215e-13	1	1	0
LANCL3	347404	broad.mit.edu	37	X	37526709	37526709	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chrX:37526709C>A	ENST00000378621.3	+	4	1372	c.1070C>A	c.(1069-1071)aCg>aAg	p.T357K	LANCL3_ENST00000378619.3_Missense_Mutation_p.T357K|TM4SF2_ENST00000465127.1_Intron	NM_198511.2	NP_940913.1	Q6ZV70	LANC3_HUMAN	LanC lantibiotic synthetase component C-like 3 (bacterial)	357							catalytic activity			lung(4)|pancreas(1)	5						TACCGGCTCACGGGAAACTCT	0.438000													14	23					1.5842e-08	2.27983e-08	1	1	0
COL22A1	169044	broad.mit.edu	37	8	139675983	139675983	+	Splice_Site	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:139675983C>A	ENST00000303045.6	-	42	3597	c.3150_splice	c.e42-1	p.G1051_splice	COL22A1_ENST00000435777.1_Splice_Site_p.G1031_splice|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1051	Collagen-like 9.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCGGAAGGGCCCTAGAAACAA	0.438000										HNSCC(7;0.00092)			4	32					0.000602214	0.000671403	1	1	0
CHDC2	286464	broad.mit.edu	37	X	36156527	36156527	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chrX:36156527T>A	ENST00000378660.1	+	10	1394	c.1206T>A	c.(1204-1206)aaT>aaA	p.N402K	CHDC2_ENST00000313548.4_Missense_Mutation_p.N402K					calponin homology domain containing 2																		ATCTGCACAATTGCCTGATTA	0.294000													5	7					0	0	1	0	0
TMCO4	255104	broad.mit.edu	37	1	20082253	20082253	+	Missense_Mutation	SNP	T	T	C	rs147657902	byFrequency	TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:20082253T>C	ENST00000294543.6	-	7	630	c.389A>G	c.(388-390)tAt>tGt	p.Y130C	TMCO4_ENST00000375127.1_Missense_Mutation_p.Y130C|TMCO4_ENST00000375122.2_Missense_Mutation_p.Y130C	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	130						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		CCGGGCGTCATAGTGCCCTCG	0.493000													48	61					0	0	1	0	0
GALNT15	117248	broad.mit.edu	37	3	16268966	16268966	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:16268966C>T	ENST00000339732.5	+	10	2382	c.1879C>T	c.(1879-1881)Cag>Tag	p.Q627*	GALNT15_ENST00000437509.1_Intron	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		AGCCCGCCAGCAGTGGCGTTT	0.443000													4	25					0	0	1	0	0
ZNF644	84146	broad.mit.edu	37	1	91404899	91404899	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:91404899G>A	ENST00000370440.1	-	3	2229	c.2012C>T	c.(2011-2013)tCa>tTa	p.S671L	ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.S671L			Q9H582	ZN644_HUMAN	zinc finger protein 644	671					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		AAAACTACTTGATTGTGAGGT	0.373000													15	16					0	0	1	0	0
STXBP2	6813	broad.mit.edu	37	19	7707910	7707910	+	Silent	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:7707910G>A	ENST00000441779.2	+	12	1072	c.1035G>A	c.(1033-1035)ccG>ccA	p.P345P	STXBP2_ENST00000221283.5_Silent_p.P334P|STXBP2_ENST00000414284.2_Silent_p.P331P	NM_001272034.1	NP_001258963.1	Q15833	STXB2_HUMAN	syntaxin binding protein 2	334					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						AAAAGATGCCGCAGTACCAGA	0.602000													28	84					0	0	1	0	0
BID	637	broad.mit.edu	37	22	18222179	18222179	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr22:18222179C>A	ENST00000317361.7	-	4	763	c.437G>T	c.(436-438)aGc>aTc	p.S146I	BID_ENST00000399765.1_Missense_Mutation_p.S4I|BID_ENST00000551952.1_Missense_Mutation_p.S100I|BID_ENST00000399774.3_Missense_Mutation_p.S100I|BID_ENST00000399767.1_Missense_Mutation_p.S4I|BID_ENST00000473439.1_5'UTR|BID_ENST00000342111.5_Missense_Mutation_p.A132S	NM_197966.2	NP_932070.1	P55957	BID_HUMAN	BH3 interacting domain death agonist	100					activation of pro-apoptotic gene products|establishment of protein localization in membrane|induction of apoptosis by intracellular signals|induction of apoptosis via death domain receptors|neuron apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|release of cytochrome c from mitochondria	cytosol|membrane fraction|mitochondrial outer membrane	death receptor binding			large_intestine(2)|ovary(1)	3		all_epithelial(15;0.198)		Lung(27;0.0419)		CGGAGGGATGCTACGGTCCAT	0.642000													14	63					4.3838e-07	5.84395e-07	1	1	0
NTHL1	4913	broad.mit.edu	37	16	2090150	2090150	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr16:2090150C>T	ENST00000219066.1	-	5	817	c.799G>A	c.(799-801)Gag>Aag	p.E267K	NTHL1_ENST00000562951.1_5'UTR	NM_002528.5	NP_002519.1	P78549	NTHL1_HUMAN	nth endonuclease III-like 1 (E. coli)	267					depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion	nucleoplasm	4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding			lung(1)	1						AGCCACTCCTCCAGGGCGGCG	0.647000								Base excision repair (BER), DNA glycosylases					33	211					0	0	1	0	0
IGLV3-25	28793	broad.mit.edu	37	22	23029680	23029680	+	RNA	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr22:23029680T>A	ENST00000390305.2	+	0	325																											TGACCATCAGTGGAGTCCAGG	0.517000													15	80					0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75968675	75968675	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr15:75968675C>G	ENST00000308508.5	-	10	6277	c.6185G>C	c.(6184-6186)cGc>cCc	p.R2062P	CTD-2026K11.1_ENST00000569467.1_RNA	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	2062	Cysteine-containing.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GGGGTCCAGGCGCAGGGTGGC	0.682000													12	21					0	0	1	0	0
OR5M1	390168	broad.mit.edu	37	11	56380331	56380331	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:56380331C>A	ENST00000526538.1	-	1	647	c.648G>T	c.(646-648)ctG>ctT	p.L216L		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						AAAGATAGGACAGAAGAATGA	0.453000													6	39					3.59834e-05	4.2987e-05	1	1	0
RHCG	51458	broad.mit.edu	37	15	90026426	90026426	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr15:90026426C>T	ENST00000268122.4	-	3	462	c.394G>A	c.(394-396)Gtg>Atg	p.V132M	RHCG_ENST00000544600.1_Missense_Mutation_p.V132M	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	132					amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					ACAGAGGCCACGCAGAAGTCA	0.547000													4	20					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141708338	141708338	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:141708338C>A	ENST00000475668.2	+	3	214	c.160C>A	c.(160-162)Cct>Act	p.P54T	MGAM_ENST00000549489.2_Missense_Mutation_p.P54T			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	54	Ser/Thr-rich.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TACCCCAGATCCTGGGACAAC	0.468000													8	12					0.000157383	0.000181765	1	1	0
MED23	9439	broad.mit.edu	37	6	131926382	131926382	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:131926382C>A	ENST00000403834.3	-	14	1802	c.1629G>T	c.(1627-1629)atG>atT	p.M543I	MED23_ENST00000539158.1_Intron|MED23_ENST00000368058.1_Missense_Mutation_p.M543I|MED23_ENST00000354577.4_Missense_Mutation_p.M543I|MED23_ENST00000368060.3_Missense_Mutation_p.M537I|MED23_ENST00000368053.4_Missense_Mutation_p.M543I|MED23_ENST00000368068.3_Missense_Mutation_p.M537I|MED23_ENST00000540546.1_Missense_Mutation_p.M543I|MED23_ENST00000545957.1_Missense_Mutation_p.M178I			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	537					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		GAACATACCTCATTTTGGCAT	0.363000													11	5					0.000673444	0.000748415	1	1	0
CFAP54	144535	broad.mit.edu	37	12	97073491	97073491	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:97073491A>T	ENST00000524981.3	+	7	1030	c.1030A>T	c.(1030-1032)Agc>Tgc	p.S344C				Q6ZTY8	CL063_HUMAN		318										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AATCCGACACAGCAGAAAGTT	0.443000													25	124					0	0	1	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33960193	33960193	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:33960193G>T	ENST00000361328.3	+	8	2402	c.2249G>T	c.(2248-2250)cGc>cTc	p.R750L		NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	750					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TTTAGTGACCGCTCTAACCTC	0.453000													5	63					1.23904e-05	1.51032e-05	1	1	0
LOC150776	150776	broad.mit.edu	37	2	132276303	132276303	+	RNA	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:132276303G>T	ENST00000438378.2	+	0	1942					NR_026922.1																						GGCGGTGCCTGTCCTCAGGGC	0.627000													5	6					0.014758	0.0154892	1	1	0
KIF13A	63971	broad.mit.edu	37	6	17817339	17817339	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:17817339C>A	ENST00000378814.5	-	17	1911	c.1912G>T	c.(1912-1914)Gac>Tac	p.D638Y	KIF13A_ENST00000378843.2_Missense_Mutation_p.D638Y|KIF13A_ENST00000259711.6_Missense_Mutation_p.D638Y|KIF13A_ENST00000503342.1_5'UTR|KIF13A_ENST00000378826.2_Missense_Mutation_p.D638Y|KIF13A_ENST00000378816.5_Missense_Mutation_p.D638Y	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	638					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GGCTGCCTGTCGGGGGAGAGC	0.592000													26	59					1.42536e-11	2.25898e-11	1	1	0
ANXA6	309	broad.mit.edu	37	5	150515825	150515825	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:150515825G>T	ENST00000354546.5	-	7	708	c.481C>A	c.(481-483)Ctg>Atg	p.L161M	ANXA6_ENST00000523714.1_Missense_Mutation_p.L129M|ANXA6_ENST00000356496.5_Missense_Mutation_p.L161M|ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000521512.1_Intron	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	161						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCTGGAGCAGGACCACAAGC	0.537000													6	42					3.59834e-05	4.2987e-05	1	1	0
COL5A1	1289	broad.mit.edu	37	9	137686946	137686946	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:137686946G>T	ENST00000371817.3	+	33	3133	c.2719G>T	c.(2719-2721)Gga>Tga	p.G907*		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	907	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TGGAAAGCCAGGACCGCGGGG	0.617000													14	61					4.93089e-13	8.1571e-13	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113702253	113702253	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:113702253G>T	ENST00000297405.5	-	14	2243	c.1999C>A	c.(1999-2001)Cct>Act	p.P667T	CSMD3_ENST00000343508.3_Missense_Mutation_p.P627T|CSMD3_ENST00000352409.3_Missense_Mutation_p.P667T|CSMD3_ENST00000455883.2_Missense_Mutation_p.P563T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	667	Sushi 3.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGTGTACCAGGATCACCACAA	0.368000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			7	45					3.09899e-07	4.1471e-07	1	1	0
CIZ1	25792	broad.mit.edu	37	9	130943036	130943036	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:130943036C>T	ENST00000538431.1	-	6	893	c.646G>A	c.(646-648)Gag>Aag	p.E216K	CIZ1_ENST00000541172.1_Missense_Mutation_p.E115K|CIZ1_ENST00000393608.1_Missense_Mutation_p.E216K|CIZ1_ENST00000372948.3_Missense_Mutation_p.E216K|CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000372954.1_Missense_Mutation_p.E192K|CIZ1_ENST00000372938.5_Missense_Mutation_p.E216K|CIZ1_ENST00000357558.5_Missense_Mutation_p.E216K|CIZ1_ENST00000325721.8_Missense_Mutation_p.E187K|CIZ1_ENST00000277465.4_Missense_Mutation_p.E216K	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	216						nucleus	nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						GCGGCTTCCTCAGACCCCTCT	0.587000													22	62					0	0	1	0	0
HIST1H2BC	8347	broad.mit.edu	37	6	26123963	26123963	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:26123963G>A	ENST00000314332.5	-	1	175	c.170C>T	c.(169-171)tCc>tTc	p.S57F	HIST1H2BC_ENST00000396984.1_Missense_Mutation_p.S57F			P62807	H2B1C_HUMAN	histone cluster 1, H2bc	57					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						CATGGCCTTGGAAGAGATGCC	0.537000													87	192					0	0	1	0	0
SPATA31C1	441452	broad.mit.edu	37	9	90535498	90535498	+	RNA	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:90535498C>A	ENST00000602681.1	+	0	1402																											CCCTGATCCTCTGGCCTGCTC	0.597000													191	212					1.38709e-63	2.88203e-63	1	1	0
XKR4	114786	broad.mit.edu	37	8	56015226	56015226	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:56015226G>T	ENST00000327381.5	+	1	278	c.178G>T	c.(178-180)Ggc>Tgc	p.G60C		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	60						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)			ggacggcggcggctgctcgcg	0.821000													7	3					0.0293803	0.0304134	1	1	0
FKBP9L	360132	broad.mit.edu	37	7	55750390	55750390	+	RNA	SNP	A	A	G	rs11238374	by1000genomes	TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:55750390A>G	ENST00000455909.1	-	0	827					NR_027340.1|NR_027342.1				FK506 binding protein 9-like											endometrium(1)|kidney(1)|lung(3)	5						TAAATTCCTCAGCTGTGACCT	0.498000													4	50					0	0	1	0	0
POLR2B	5431	broad.mit.edu	37	4	57860949	57860949	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr4:57860949G>T	ENST00000381227.1	+	6	906	c.493G>T	c.(493-495)Ggc>Tgc	p.G165C	POLR2B_ENST00000431623.2_Missense_Mutation_p.G90C|POLR2B_ENST00000441246.2_Missense_Mutation_p.G158C|POLR2B_ENST00000314595.5_Missense_Mutation_p.G165C			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	165					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					CCTTTTGAATGGCTTGACAGA	0.348000													6	6					2.0095e-06	2.57411e-06	1	1	0
SPATA17	128153	broad.mit.edu	37	1	217856631	217856631	+	Missense_Mutation	SNP	G	G	T	rs35503371		TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:217856631G>T	ENST00000366933.4	+	5	378	c.323G>T	c.(322-324)cGg>cTg	p.R108L		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	108	IQ 3.					cytoplasm	calmodulin binding	p.R108L(1)|p.R108Q(1)		endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		TATAGGGTTCGGAAGTACCTC	0.323000													13	33					1.49906e-05	1.82471e-05	1	1	0
TNFRSF9	3604	broad.mit.edu	37	1	7993324	7993324	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:7993324C>A	ENST00000377507.3	-	7	743	c.577G>T	c.(577-579)Gcg>Tcg	p.A193S		NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily, member 9	193					induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		GACGTCAGCGCAAGAAAGAAG	0.453000													9	11					0.000274275	0.000310774	1	1	0
TTN	7273	broad.mit.edu	37	2	179498236	179498236	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:179498236G>T	ENST00000589042.1	-	232	43074	c.42850C>A	c.(42850-42852)Cgc>Agc	p.R14284S	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R11716S|TTN_ENST00000591111.1_Missense_Mutation_p.R12643S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R5411S|TTN_ENST00000359218.5_Missense_Mutation_p.R5344S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R5219S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12643	Fibronectin type-III 3.						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)			TTTAAGATGCGGCGCAGGCCA	0.438000													3	15					0.115264	0.117981	1	1	0
SPON1	10418	broad.mit.edu	37	11	14282264	14282264	+	RNA	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:14282264G>T	ENST00000310358.7	+	0	2497							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		ATGAGGATCTGGAGCAGGTGG	0.587000													16	49					1.3612e-06	1.76977e-06	1	1	0
MAGEA1	4100	broad.mit.edu	37	X	152482311	152482311	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chrX:152482311C>T	ENST00000356661.5	-	3	918	c.700G>A	c.(700-702)Gag>Aag	p.E234K		NM_004988.4	NP_004979.3	P43355	MAGA1_HUMAN	melanoma antigen family A, 1 (directs expression of antigen MZ2-E)	234	MAGE.					cytoplasm|plasma membrane				breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTGGGCTCCCCATAGGCA	0.582000													132	50					0	0	1	0	0
LRRTM1	347730	broad.mit.edu	37	2	80529619	80529619	+	Silent	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:80529619C>T	ENST00000295057.3	-	2	1982	c.1326G>A	c.(1324-1326)gtG>gtA	p.V442V	LRRTM1_ENST00000409148.1_Silent_p.V442V|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	442						axon|endoplasmic reticulum membrane|growth cone|integral to membrane		p.V442V(1)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GCACCAGGACCACGATGAGGA	0.602000										HNSCC(69;0.2)			14	53					0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57522279	57522279	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:57522279C>A	ENST00000420713.1	+	2	265	c.153C>A	c.(151-153)aaC>aaA	p.N51K		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						ACTACAGAAACCTGGTCTCCC	0.378000													7	10					2.0095e-06	2.57411e-06	1	1	0
RIPK1	8737	broad.mit.edu	37	6	3113470	3113470	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:3113470G>A	ENST00000259808.4	+	11	2211	c.1913G>A	c.(1912-1914)aGg>aAg	p.R638K	RIPK1_ENST00000541791.1_Missense_Mutation_p.R592K|RIPK1_ENST00000380409.2_Missense_Mutation_p.R638K			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	638	Death.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				TGGGTGATGAGGGAAGGCATA	0.517000													13	38					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179463331	179463331	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:179463331C>G	ENST00000589042.1	-	292	57237	c.57013G>C	c.(57013-57015)Gca>Cca	p.A19005P	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A16437P|TTN_ENST00000591111.1_Missense_Mutation_p.A17364P|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A10132P|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A10065P|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A9940P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17364	Fibronectin type-III 37.						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)			TCCAGATCTGCAGATGATTTA	0.428000													7	23					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179546117	179546117	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:179546117G>T	ENST00000589042.1	-	137	33457	c.33233C>A	c.(33232-33234)cCt>cAt	p.P11078H	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P9834H|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P10761H|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10761	Glu-rich.|Pro-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)			GGGTGGTGGAGGTTTGAGTTT	0.363000													2	0					0.0016	0.00174902	1	1	0
SLC13A2	9058	broad.mit.edu	37	17	26821467	26821467	+	Silent	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:26821467G>A	ENST00000444914.3	+	9	1812	c.1392G>A	c.(1390-1392)caG>caA	p.Q464Q	SLC13A2_ENST00000545060.1_Silent_p.Q372Q|SLC13A2_ENST00000314669.5_Silent_p.Q415Q|SLC13A2_ENST00000537681.1_Silent_p.Q344Q	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	415						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CGGTGAACCAGAAGATGCCGT	0.577000											OREG0024276	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	65	125					0	0	1	0	0
LPAR6	10161	broad.mit.edu	37	13	48986459	48986459	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr13:48986459G>T	ENST00000378434.4	-	7	1725	c.101C>A	c.(100-102)tCc>tAc	p.S34Y	RB1_ENST00000267163.4_Intron|LPAR6_ENST00000345941.2_Missense_Mutation_p.S34Y	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN	lysophosphatidic acid receptor 6	34						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.0?(15)|p.?(4)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						AACACAATTGGATATTAACCC	0.388000													5	10					3.59834e-05	4.2987e-05	1	1	0
BASP1	10409	broad.mit.edu	37	5	17275856	17275856	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:17275856G>T	ENST00000322611.3	+	2	791	c.531G>T	c.(529-531)tcG>tcT	p.S177S		NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein 1	177					glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding			endometrium(1)|lung(8)	9						CCGGCAGCTCGGAGGCTGCCC	0.662000													5	43					0.184627	0.186887	1	1	0
KIAA1217	56243	broad.mit.edu	37	10	24813550	24813550	+	Missense_Mutation	SNP	G	G	T	rs151027148		TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:24813550G>T	ENST00000376451.2	+	8	2064	c.1804G>T	c.(1804-1806)Gtc>Ttc	p.V602F	KIAA1217_ENST00000376462.1_Missense_Mutation_p.V839F|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000376454.3_Missense_Mutation_p.V919F|KIAA1217_ENST00000376452.3_Missense_Mutation_p.V884F|KIAA1217_ENST00000396446.1_Missense_Mutation_p.V602F|KIAA1217_ENST00000307544.6_Missense_Mutation_p.V602F|KIAA1217_ENST00000396445.1_Missense_Mutation_p.V602F|KIAA1217_ENST00000458595.1_Missense_Mutation_p.V884F			Q5T5P2	SKT_HUMAN	KIAA1217	919					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CTCCCCAGCCGTCCCCCAGGA	0.622000													13	63					0.00010058	0.000117569	1	1	0
AC010731.4	0	broad.mit.edu	37	2	207509374	207509374	+	RNA	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:207509374T>A	ENST00000543490.1	+	0	587																											GTAAACAAGGTGGTCAACCCC	0.483000													4	9					0	0	1	0	0
LENG8	114823	broad.mit.edu	37	19	54967272	54967272	+	Silent	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:54967272G>C	ENST00000326764.5	+	9	1631	c.1152G>C	c.(1150-1152)acG>acC	p.T384T	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	347	Ser-rich.						protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		AGCGAGGGACGCCCGGGGCTG	0.667000													21	87					0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78213930	78213930	+	RNA	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr15:78213930G>T	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							TGGTCTTCAAGTCTGCCTTTT	0.473000													17	45					1.5739e-10	2.43659e-10	1	1	0
DNAH9	1770	broad.mit.edu	37	17	11607717	11607717	+	Silent	SNP	T	T	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:11607717T>C	ENST00000262442.3	+	25	5417	c.5349T>C	c.(5347-5349)gaT>gaC	p.D1783D	DNAH9_ENST00000454412.2_Silent_p.D1783D	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1783	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)		GCACCATCGATGTGCATGCCC	0.507000													11	48					0	0	1	0	0
ST8SIA4	7903	broad.mit.edu	37	5	100191808	100191808	+	Splice_Site	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:100191808C>T	ENST00000231461.5	-	4	1106	c.797_splice	c.e4+1	p.G266_splice		NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	266					axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		GTCACTTACCCTCTGACAGCA	0.403000													8	24					0	0	1	0	0
RBMX2	51634	broad.mit.edu	37	X	129546493	129546493	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chrX:129546493C>T	ENST00000305536.6	+	6	704	c.640C>T	c.(640-642)Cag>Tag	p.Q214*		NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	214	Lys-rich.						nucleotide binding|RNA binding			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						AGAGAGAGCTCAGAAGTCAGA	0.557000													33	20					0	0	1	0	0
CHAC2	494143	broad.mit.edu	37	2	53999056	53999056	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:53999056G>T	ENST00000295304.4	+	2	243	c.148G>T	c.(148-150)Gtg>Ttg	p.V50L	GPR75-ASB3_ENST00000406687.1_Intron|GPR75-ASB3_ENST00000394717.2_Intron|ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000263634.3_Intron|GPR75-ASB3_ENST00000352846.3_Intron	NM_001008708.2	NP_001008708.1	Q8WUX2	CHAC2_HUMAN	ChaC, cation transport regulator homolog 2 (E. coli)	50										endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TGGAAGAGTTGTGACTCTTGT	0.269000													9	21					3.86212e-05	4.60117e-05	1	1	0
TDRD5	163589	broad.mit.edu	37	1	179561895	179561895	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:179561895G>T	ENST00000444136.1	+	2	395	c.145G>T	c.(145-147)Ggg>Tgg	p.G49W	TDRD5_ENST00000367614.1_Missense_Mutation_p.G49W|TDRD5_ENST00000294848.8_Missense_Mutation_p.G49W	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	49	Lotus/OST-HTH 1.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CCGAATCCTTGGGTATCGGTC	0.483000													20	66					1.01871e-10	1.58416e-10	1	1	0
ZNF57	126295	broad.mit.edu	37	19	2917794	2917794	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:2917794A>G	ENST00000306908.5	+	4	1323	c.1175A>G	c.(1174-1176)tAt>tGt	p.Y392C	AC006277.2_ENST00000520090.2_RNA|ZNF57_ENST00000523428.1_Missense_Mutation_p.Y360C	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				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)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGCAGCTCTATAAATGTGAA	0.433000													5	38					0	0	1	0	0
ZDHHC24	254359	broad.mit.edu	37	11	66307261	66307261	+	Silent	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:66307261G>A	ENST00000310442.3	-	3	828	c.594C>T	c.(592-594)ttC>ttT	p.F198F	ZDHHC24_ENST00000526986.1_Intron	NM_207340.1	NP_997223.1	Q6UX98	ZDH24_HUMAN	zinc finger, DHHC-type containing 24	198	Leu-rich.					integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1)	7						TGTCCGTCACGAAGGCCAAGG	0.652000													10	28					0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32253535	32253535	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr22:32253535G>T	ENST00000400246.1	+	32	3402	c.3260G>T	c.(3259-3261)cGa>cTa	p.R1087L	DEPDC5_ENST00000539165.1_5'UTR|DEPDC5_ENST00000494060.1_3'UTR|DEPDC5_ENST00000400248.1_Missense_Mutation_p.R1078L|DEPDC5_ENST00000535622.1_Missense_Mutation_p.R1009L|DEPDC5_ENST00000266091.3_Missense_Mutation_p.R1087L|DEPDC5_ENST00000382111.2_Missense_Mutation_p.R1087L|DEPDC5_ENST00000382112.3_Missense_Mutation_p.R1078L|DEPDC5_ENST00000400249.2_Missense_Mutation_p.R1078L|DEPDC5_ENST00000382105.2_Missense_Mutation_p.R1009L			O75140	DEPD5_HUMAN	DEP domain containing 5	1078					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GACAGCCCACGAAAGGTAAAG	0.582000													4	4					0.150653	0.153301	1	1	0
MAP4K1	11184	broad.mit.edu	37	19	39100299	39100299	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:39100299G>C	ENST00000591517.1	-	13	971	c.943C>G	c.(943-945)Cct>Gct	p.P315A	MAP4K1_ENST00000396857.2_Missense_Mutation_p.P315A|MAP4K1_ENST00000586296.1_Missense_Mutation_p.P315A|MAP4K1_ENST00000589130.1_Missense_Mutation_p.P311A|MAP4K1_ENST00000589002.1_5'UTR|MAP4K1_ENST00000423454.2_5'UTR	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	315					activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ATCCGCCGAGGGATAGCAGGG	0.617000													13	17					0	0	1	0	0
SLC3A2	6520	broad.mit.edu	37	11	62650419	62650419	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:62650419G>T	ENST00000377892.1	+	7	1258	c.1034G>T	c.(1033-1035)gGt>gTt	p.G345V	SLC3A2_ENST00000377889.2_Missense_Mutation_p.G252V|SLC3A2_ENST00000536981.1_5'UTR|SLC3A2_ENST00000377891.2_Missense_Mutation_p.G315V|SLC3A2_ENST00000535296.1_Missense_Mutation_p.G283V|SLC3A2_ENST00000377890.2_Missense_Mutation_p.G314V|SLC3A2_ENST00000338663.7_Missense_Mutation_p.G213V|SLC3A2_ENST00000538682.1_3'UTR			P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	314					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						AACTACCGGGGTGAGAACTCG	0.517000													27	41					3.73148e-12	6.02377e-12	1	1	0
CD22	933	broad.mit.edu	37	19	35827245	35827245	+	Splice_Site	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:35827245G>T	ENST00000085219.5	+	4	784		c.e4+1		CD22_ENST00000419549.2_Splice_Site|CD22_ENST00000594250.1_Splice_Site|CD22_ENST00000270311.6_Splice_Site|CD22_ENST00000536635.2_Splice_Site|CD22_ENST00000341773.6_Splice_Site|CD22_ENST00000544992.2_Splice_Site	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule						cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	AACGTGAAGCGTGAGTCTCCC	0.617000													8	41					0.000157383	0.000181765	1	1	0
MYO9A	4649	broad.mit.edu	37	15	72144532	72144532	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr15:72144532C>G	ENST00000356056.5	-	36	6888	c.6416G>C	c.(6415-6417)cGa>cCa	p.R2139P	MYO9A_ENST00000424560.1_Missense_Mutation_p.R2210P|MYO9A_ENST00000564571.1_Missense_Mutation_p.R2139P|MYO9A_ENST00000444904.1_Missense_Mutation_p.R2120P	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2139	Rho-GAP.|Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GGGCAAATCTCGAAGCCATTG	0.398000													3	8					0	0	1	0	0
GPR123	84435	broad.mit.edu	37	10	134896174	134896174	+	Silent	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:134896174G>A	ENST00000607359.1	+	6	1260	c.1260G>A	c.(1258-1260)ctG>ctA	p.L420L				Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GCCTTGGCCTGAGGTGGGCAT	0.622000													7	41					0	0	1	0	0
ELL2	22936	broad.mit.edu	37	5	95234207	95234207	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:95234207A>T	ENST00000237853.4	-	8	1611	c.1262T>A	c.(1261-1263)aTc>aAc	p.I421N	ELL2_ENST00000431061.2_Missense_Mutation_p.I171N	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	421					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		GTCCTCATAGATACTATCGTT	0.458000													16	55					0	0	1	0	0
FGD3	89846	broad.mit.edu	37	9	95772596	95772596	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:95772596G>T	ENST00000375482.3	+	7	1402	c.906G>T	c.(904-906)cgG>cgT	p.R302R	FGD3_ENST00000416701.2_Silent_p.R302R|FGD3_ENST00000337352.6_Silent_p.R302R	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	302	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|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.R302R(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						GGGTCCCCCGGTACGAGCTGC	0.652000													14	24					7.93312e-07	1.03608e-06	1	1	0
SERPINA5	5104	broad.mit.edu	37	14	95057196	95057196	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr14:95057196C>A	ENST00000329597.7	+	5	1211	c.1001C>A	c.(1000-1002)tCc>tAc	p.S334Y	SERPINA5_ENST00000554866.1_Missense_Mutation_p.S334Y|SERPINA5_ENST00000553780.1_Missense_Mutation_p.S334Y|SERPINA5_ENST00000554276.1_Missense_Mutation_p.S334Y	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	334					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	GCTGATCTGTCCGGCATCAGC	0.488000													7	62					0.248553	0.250863	1	1	0
EDIL3	10085	broad.mit.edu	37	5	83433174	83433174	+	Splice_Site	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:83433174T>A	ENST00000296591.5	-	5	774		c.e5-2		EDIL3_ENST00000380138.3_Splice_Site	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3						cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		CATTTATGTCTAAGAAAAACA	0.333000													13	20					0	0	1	0	0
CCDC33	80125	broad.mit.edu	37	15	74625100	74625100	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr15:74625100C>A	ENST00000321288.5	+	18	2461	c.2461C>A	c.(2461-2463)Ctg>Atg	p.L821M	CCDC33_ENST00000268082.4_Missense_Mutation_p.L211M|CCDC33_ENST00000398814.3_Missense_Mutation_p.L618M|CCDC33_ENST00000558821.1_Missense_Mutation_p.L211M			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	821							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CTCGGTGCTGCTGGCAGAAAA	0.592000													25	49					9.57634e-11	1.49319e-10	1	1	0
CASP8AP2	9994	broad.mit.edu	37	6	90577104	90577104	+	RNA	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:90577104G>T	ENST00000551025.1	+	0	5532							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TAGTTTCAGGGGTGGCTTCTC	0.423000													3	10					0.004672	0.00499401	1	1	0
GFPT2	9945	broad.mit.edu	37	5	179763576	179763576	+	Splice_Site	SNP	A	A	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:179763576A>G	ENST00000253778.8	-	3	286	c.115_splice	c.e3-1	p.G39_splice		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	39	Glutamine amidotransferase type-2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CGATCGCCACACCTGTGATGT	0.483000													39	167					0	0	1	0	0
CASP1	834	broad.mit.edu	37	11	104901096	104901096	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:104901096C>A	ENST00000533400.1	-	5	623	c.588G>T	c.(586-588)ctG>ctT	p.L196L	CASP1_ENST00000594519.1_Silent_p.L103L|CASP1_ENST00000593315.1_Silent_p.L175L|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000436863.3_Silent_p.L196L|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000528974.1_Silent_p.L157L|CASP1_ENST00000393136.4_Silent_p.L175L|CASP1_ENST00000534497.1_Silent_p.L103L|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000527979.1_Silent_p.L159L|CASP1_ENST00000526568.1_Silent_p.L103L|CASP1_ENST00000525825.1_Silent_p.L175L|CASP1_ENST00000446369.1_Silent_p.L103L|CASP1_ENST00000598974.1_Silent_p.L196L	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	196					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	CGCTGTACCCCAGATTTTGTA	0.383000													12	17					1.5842e-08	2.27983e-08	1	1	0
GDAP2	54834	broad.mit.edu	37	1	118461306	118461306	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:118461306C>A	ENST00000369443.4	-	3	478	c.229G>T	c.(229-231)Gaa>Taa	p.E77*	GDAP2_ENST00000369442.3_Nonsense_Mutation_p.E77*	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	77	Macro.									kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		GTGAGACTTTCATTGCTGGTA	0.388000													9	16					1.12685e-05	1.38035e-05	1	1	0
STARD13	90627	broad.mit.edu	37	13	33703277	33703277	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr13:33703277T>C	ENST00000336934.5	-	5	1653	c.1537A>G	c.(1537-1539)Act>Gct	p.T513A	STARD13_ENST00000255486.4_Missense_Mutation_p.T505A|STARD13_ENST00000399365.3_Missense_Mutation_p.T395A	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	513					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GTATCATGAGTTTGCAGTTCA	0.463000													10	38					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79320641	79320641	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:79320641G>T	ENST00000428286.1	-	8	6672	c.5472C>A	c.(5470-5472)ccC>ccA	p.P1824P	PRUNE2_ENST00000376718.3_Silent_p.P2183P			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2183					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	p.P2183P(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TATGAGAGGCGGGCTGAGAGG	0.478000													28	41					6.32553e-13	1.04048e-12	1	1	0
CACNA1C	775	broad.mit.edu	37	12	2659170	2659170	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:2659170C>A	ENST00000399655.1	+	10	1717	c.1452C>A	c.(1450-1452)atC>atA	p.I484I	CACNA1C_ENST00000399601.1_Silent_p.I484I|CACNA1C_ENST00000399637.1_Silent_p.I484I|CACNA1C_ENST00000399629.1_Silent_p.I484I|CACNA1C_ENST00000399595.1_Silent_p.I484I|CACNA1C_ENST00000399603.1_Silent_p.I484I|CACNA1C_ENST00000344100.3_Silent_p.I484I|CACNA1C_ENST00000399597.1_Silent_p.I484I|CACNA1C_ENST00000399644.1_Silent_p.I484I|CACNA1C_ENST00000399606.1_Silent_p.I484I|CACNA1C_ENST00000327702.7_Silent_p.I484I|CACNA1C_ENST00000347598.4_Silent_p.I484I|CACNA1C_ENST00000399621.1_Silent_p.I484I|CACNA1C_ENST00000406454.3_Silent_p.I484I|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000399591.1_Silent_p.I484I|CACNA1C_ENST00000399638.1_Silent_p.I484I|CACNA1C_ENST00000402845.3_Silent_p.I484I|CACNA1C_ENST00000399649.1_Silent_p.I484I|CACNA1C_ENST00000480911.1_Silent_p.I484I|CACNA1C_ENST00000335762.5_Silent_p.I509I|CACNA1C_ENST00000399634.1_Silent_p.I484I|CACNA1C_ENST00000399617.1_Silent_p.I484I|CACNA1C_ENST00000399641.1_Silent_p.I484I	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	484					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)	GAGGTGACATCGAGGGAGAAA	0.597000													5	11					2.0095e-06	2.57411e-06	1	1	0
DNAH3	55567	broad.mit.edu	37	16	20976221	20976221	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr16:20976221C>A	ENST00000261383.3	-	53	8984	c.8985G>T	c.(8983-8985)ctG>ctT	p.L2995L	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2995					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)		CGTCACCAGTCAGATTAGTAT	0.527000													44	73					4.01765e-15	6.90957e-15	1	1	0
SMC5	23137	broad.mit.edu	37	9	72901175	72901175	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:72901175G>C	ENST00000361138.5	+	8	1099	c.1041G>C	c.(1039-1041)agG>agC	p.R347S		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	347					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						TTATAGAAAGGAAAGATAAAC	0.333000													9	19					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33881251	33881251	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:33881251C>A	ENST00000504830.1	-	2	797	c.462G>T	c.(460-462)acG>acT	p.T154T	ADAMTS12_ENST00000515401.1_Silent_p.T154T|ADAMTS12_ENST00000352040.3_Silent_p.T154T	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	154					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGAGGGCTGCCGTCCCAACTC	0.587000										HNSCC(64;0.19)			41	130					1.04594e-18	1.91645e-18	1	1	0
SCAF1	58506	broad.mit.edu	37	19	50149816	50149816	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:50149816G>T	ENST00000360565.3	+	5	419	c.295G>T	c.(295-297)Ggg>Tgg	p.G99W		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	99					mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CTTCCTCGCAGGGCTGGTGAG	0.647000													20	90					0.000175454	0.000202501	1	1	0
UNC79	57578	broad.mit.edu	37	14	94046586	94046586	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr14:94046586C>T	ENST00000553484.1	+	19	2679	c.2525C>T	c.(2524-2526)cCc>cTc	p.P842L	UNC79_ENST00000393151.2_Missense_Mutation_p.P842L|UNC79_ENST00000256339.4_Missense_Mutation_p.P665L|UNC79_ENST00000555664.1_Missense_Mutation_p.P842L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	842						integral to membrane		p.I654_H670del(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TTCCAAGCCCCCTGGGGGGGA	0.448000													10	46					0	0	1	0	0
MEMO1	51072	broad.mit.edu	37	2	32145866	32145866	+	Splice_Site	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:32145866C>T	ENST00000295065.4	-	4	635		c.e4+1		MEMO1_ENST00000490459.1_Splice_Site|MEMO1_ENST00000379383.3_Splice_Site|DPY30_ENST00000446765.1_Splice_Site|MEMO1_ENST00000404530.1_Splice_Site|MEMO1_ENST00000426310.2_Splice_Site	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN	mediator of cell motility 1						regulation of microtubule-based process	cytosol|nucleus				NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17	Acute lymphoblastic leukemia(172;0.155)					TATATACTTACTCTTTTGGTC	0.333000													13	20					0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17046637	17046637	+	RNA	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:17046637C>A	ENST00000492551.1	-	0	15					NR_026567.1																						ACTGTGGGACCAGAATTGTCT	0.622000													20	160					2.4624e-09	3.64016e-09	1	1	0
FBXL7	23194	broad.mit.edu	37	5	15936915	15936915	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:15936915G>T	ENST00000504595.1	+	4	1577	c.1096G>T	c.(1096-1098)Gtg>Ttg	p.V366L	FBXL7_ENST00000510662.1_Missense_Mutation_p.V319L|FBXL7_ENST00000329673.7_Missense_Mutation_p.V354L	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	366					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GGTCACCGACGTGGGCATCCG	0.672000													11	45					0.000978159	0.00108497	1	1	0
ASPM	259266	broad.mit.edu	37	1	197072367	197072367	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:197072367C>A	ENST00000367409.4	-	18	6270	c.6014G>T	c.(6013-6015)aGg>aTg	p.R2005M	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2005					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ACTGTAAGCCCTATAATACTT	0.328000													11	39					1.58986e-06	2.0517e-06	1	1	0
HP1BP3	50809	broad.mit.edu	37	1	21071381	21071381	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:21071381G>A	ENST00000375003.2	-	9	2615	c.1115C>T	c.(1114-1116)tCa>tTa	p.S372L	HP1BP3_ENST00000312239.5_Missense_Mutation_p.S524L			Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	524	H15 3.				nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		AGGCTTCTTTGAGGAGCCACC	0.473000													20	19					0	0	1	0	0
DACT1	51339	broad.mit.edu	37	14	59112482	59112482	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr14:59112482C>A	ENST00000395153.3	+	4	1177	c.1030C>A	c.(1030-1032)Ccg>Acg	p.P344T	DACT1_ENST00000395151.3_Missense_Mutation_p.P100T|DACT1_ENST00000556859.1_Missense_Mutation_p.P100T|DACT1_ENST00000335867.4_Missense_Mutation_p.P381T|DACT1_ENST00000541264.2_Missense_Mutation_p.P100T	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	381					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						TGTCAGAGCCCCGGGCGGTGT	0.537000													17	104					3.41278e-10	5.19545e-10	1	1	0
NLE1	54475	broad.mit.edu	37	17	33464164	33464164	+	Silent	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:33464164C>T	ENST00000442241.4	-	7	723	c.684G>A	c.(682-684)gtG>gtA	p.V228V	NLE1_ENST00000593176.1_5'UTR|NLE1_ENST00000586869.1_5'UTR|NLE1_ENST00000360831.5_Silent_p.V186V	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	228						nucleolus				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				CCCAGATCCGCACACTGCCAT	0.617000													41	48					0	0	1	0	0
CSTF3	1479	broad.mit.edu	37	11	33124691	33124691	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:33124691G>A	ENST00000323959.4	-	9	764	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	209					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						TCTCTACTCCGATCTTCAATC	0.274000													4	11					0	0	1	0	0
TRBV5-7	28608	broad.mit.edu	37	7	142111616	142111616	+	RNA	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:142111616C>T	ENST00000390378.1	-	0	119																											GAGAGCATCTCAGAGTCACGT	0.522000													58	71					0	0	1	0	0
VPREB1	7441	broad.mit.edu	37	22	22599624	22599624	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr22:22599624C>A	ENST00000403807.3	+	2	452	c.313C>A	c.(313-315)Ctg>Atg	p.L105M	VPREB1_ENST00000302273.2_Missense_Mutation_p.L104M			P12018	VPREB_HUMAN	pre-B lymphocyte 1	105	Framework-3.|Ig-like V-type.				immune response	extracellular region	antigen binding|protein binding			large_intestine(1)|liver(1)|lung(6)|skin(1)	9	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		CATCTCTGAGCTGCAGCCTGA	0.577000													13	52					5.50884e-06	6.85448e-06	1	1	0
DOCK2	1794	broad.mit.edu	37	5	169139180	169139180	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:169139180G>C	ENST00000256935.8	+	17	1692	c.1612G>C	c.(1612-1614)Gat>Cat	p.D538H	DOCK2_ENST00000540750.1_Intron|DOCK2_ENST00000520908.1_Intron	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	538	DHR-1.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GATGAAAGAAGATGGGACTAC	0.453000													5	32					0	0	1	0	0
CSF2RB	1439	broad.mit.edu	37	22	37334110	37334110	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr22:37334110G>T	ENST00000262825.5	+	14	2495	c.2278G>T	c.(2278-2280)Gga>Tga	p.G760*	CSF2RB_ENST00000536485.1_Nonsense_Mutation_p.G701*|CSF2RB_ENST00000406230.1_Nonsense_Mutation_p.G760*|CSF2RB_ENST00000403662.3_Nonsense_Mutation_p.G754*	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	754					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	TGGACCCCCTGGAGCCCCAGG	0.642000													21	44					3.51602e-12	5.68123e-12	1	1	0
ST8SIA4	7903	broad.mit.edu	37	5	100191957	100191957	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:100191957G>T	ENST00000231461.5	-	4	957	c.647C>A	c.(646-648)tCc>tAc	p.S216Y		NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	216					axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		ATTCAGCATGGAAAGTCTATG	0.388000													4	25					0.150653	0.153301	1	1	0
DIAPH2	1730	broad.mit.edu	37	X	96200548	96200548	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chrX:96200548A>T	ENST00000324765.8	+	14	1814	c.1467A>T	c.(1465-1467)aaA>aaT	p.K489N	DIAPH2_ENST00000373049.4_Missense_Mutation_p.K489N|DIAPH2_ENST00000373054.4_Missense_Mutation_p.K485N|DIAPH2_ENST00000355827.4_Missense_Mutation_p.K489N|DIAPH2_ENST00000373061.3_Missense_Mutation_p.K489N			O60879	DIAP2_HUMAN	diaphanous-related formin 2	489					cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						ACAAGGCGAAAGTTGAAGAAA	0.323000													7	8					0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9227310	9227310	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:9227310G>T	ENST00000318602.7	-	29	3909	c.3602C>A	c.(3601-3603)gCt>gAt	p.A1201D		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1201					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)	AGCAGAGGGAGCCTGGGGTTC	0.527000													6	28					0.00307968	0.00331849	1	1	0
LRFN5	145581	broad.mit.edu	37	14	42360867	42360867	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr14:42360867C>A	ENST00000298119.4	+	4	2989	c.1800C>A	c.(1798-1800)gcC>gcA	p.A600A	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	600						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AAGAGAATGCCCAGTGTTGTA	0.483000										HNSCC(30;0.082)			9	38					0.0477658	0.0492398	1	1	0
REEP2	51308	broad.mit.edu	37	5	137781247	137781247	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:137781247C>A	ENST00000378339.2	+	7	848	c.656C>A	c.(655-657)cCc>cAc	p.P219H	REEP2_ENST00000254901.5_Missense_Mutation_p.P217H|REEP2_ENST00000506158.1_Missense_Mutation_p.P179H	NM_001271803.1	NP_001258732.1	Q9BRK0	REEP2_HUMAN	receptor accessory protein 2	217						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GACAAAGCTCCCAAGAGGGCC	0.607000													16	53					6.31663e-08	8.74261e-08	1	1	0
GPR37	2861	broad.mit.edu	37	7	124404121	124404121	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:124404121C>T	ENST00000303921.2	-	1	1560	c.910G>A	c.(910-912)Gcc>Acc	p.A304T		NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	304				A -> V (in Ref. 3; AAC51281).		endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCCCAGAAGGCCAGGTTGGCC	0.552000													21	115					0	0	1	0	0
HSD11B1L	374875	broad.mit.edu	37	19	5684828	5684828	+	Translation_Start_Site	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:5684828A>T	ENST00000581773.1	+	0	384				HSD11B1L_ENST00000581521.1_Splice_Site|RPL36_ENST00000577222.1_Intron|HSD11B1L_ENST00000301382.4_Splice_Site|HSD11B1L_ENST00000411793.2_Intron|RPL36_ENST00000582380.2_Intron|HSD11B1L_ENST00000577917.1_Splice_Site|HSD11B1L_ENST00000342970.2_Intron|HSD11B1L_ENST00000577701.1_Intron|HSD11B1L_ENST00000581893.1_Intron|HSD11B1L_ENST00000583928.1_Intron|HSD11B1L_ENST00000423665.2_Splice_Site|HSD11B1L_ENST00000339423.2_Splice_Site|RPL36_ENST00000579649.1_Intron|HSD11B1L_ENST00000422535.2_Splice_Site	NM_001267868.1	NP_001254797.1	Q7Z5J1	DHI1L_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1-like							extracellular region	binding|oxidoreductase activity										GTCCCTCTGCAGGCCCACACA	0.622000													12	61					0	0	1	0	0
TRBC2	28638	broad.mit.edu	37	7	142498986	142498986	+	RNA	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:142498986A>T	ENST00000466254.1	+	0	262																											ACCTTCTGGCAGAACCCCCGC	0.627000													20	153					0	0	1	0	0
MLLT6	4302	broad.mit.edu	37	17	36876112	36876112	+	Silent	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:36876112C>T	ENST00000325718.7	+	14	2210	c.2119C>T	c.(2119-2121)Ctg>Ttg	p.L707L	CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928.2	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	707					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					GGAGCAGCTTCTGGAGAAGCA	0.687000			T	MLL	AL								5	21					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124345684	124345684	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:124345684G>T	ENST00000368909.3	+	16	1674	c.1568G>T	c.(1567-1569)tGg>tTg	p.W523L	DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.W513L|DMBT1_ENST00000344338.3_Missense_Mutation_p.W513L|DMBT1_ENST00000338354.3_Missense_Mutation_p.W523L|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000359586.6_Intron	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	523	SRCR 4.				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)				GATGACAGCTGGGACACCAAT	0.612000													211	482					7.36362e-93	1.53549e-92	1	1	0
TRIM9	114088	broad.mit.edu	37	14	51448566	51448566	+	Missense_Mutation	SNP	A	A	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr14:51448566A>C	ENST00000298355.3	-	8	2980	c.1859T>G	c.(1858-1860)gTg>gGg	p.V620G	TRIM9_ENST00000338969.5_Missense_Mutation_p.V701G	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	620	B30.2/SPRY.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					GTTATTGTCCACATACATTGC	0.517000													107	77					0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76735733	76735733	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:76735733G>T	ENST00000287239.4	+	8	2127	c.1638G>T	c.(1636-1638)ggG>ggT	p.G546G	KAT6B_ENST00000372724.1_Intron|KAT6B_ENST00000372725.1_Intron|KAT6B_ENST00000372714.1_Intron|KAT6B_ENST00000372711.1_Intron	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	546	Negatively regulates HAT activity.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										TCTTTGATGGGCTTTCTCATA	0.512000													24	39					5.35047e-06	6.7103e-06	1	1	0
PPP2R3A	5523	broad.mit.edu	37	3	135806771	135806771	+	Silent	SNP	A	A	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:135806771A>G	ENST00000264977.3	+	9	3452	c.2835A>G	c.(2833-2835)acA>acG	p.T945T	PPP2R3A_ENST00000334546.2_Silent_p.T324T|PPP2R3A_ENST00000490467.1_Silent_p.T209T	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	945					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GTGCAGTAACAAGGTAAGAAA	0.318000													13	10					0	0	1	0	0
COPB1	1315	broad.mit.edu	37	11	14512186	14512186	+	Silent	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:14512186T>A	ENST00000249923.3	-	5	831	c.531A>T	c.(529-531)atA>atT	p.I177I	COPB1_ENST00000439561.2_Silent_p.I177I	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	177					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						GAAAATCATGTATCAGTTCAG	0.308000													3	5					0	0	1	0	0
QSOX2	169714	broad.mit.edu	37	9	139103118	139103118	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:139103118C>A	ENST00000358701.5	-	11	1578	c.1541G>T	c.(1540-1542)cGc>cTc	p.R514L		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	514	ERV/ALR sulfhydryl oxidase.				cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		ACCTGCCAGGCGGCCGTTCAC	0.617000													11	43					3.86212e-05	4.60117e-05	1	1	0
MICAL3	57553	broad.mit.edu	37	22	18273594	18273594	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr22:18273594C>A	ENST00000441493.2	-	32	6265	c.5913G>T	c.(5911-5913)gtG>gtT	p.V1971V	XXbac-B461K10.4_ENST00000476405.1_RNA	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1971						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CCAGCAGCGCCACCAGTGAGT	0.567000													8	55					0.0477658	0.0492398	1	1	0
PARD3B	117583	broad.mit.edu	37	2	205986561	205986561	+	Silent	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:205986561G>A	ENST00000406610.2	+	8	1260	c.1053G>A	c.(1051-1053)aaG>aaA	p.K351K	PARD3B_ENST00000349953.3_Silent_p.K351K|PARD3B_ENST00000358768.2_Silent_p.K351K|PARD3B_ENST00000351153.1_Silent_p.K351K|PARD3B_ENST00000462231.1_Silent_p.K351K	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	351					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		AACAAAACAAGAGTCCCCGAG	0.478000													22	20					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70446134	70446134	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:70446134G>T	ENST00000310961.5	+	10	1103	c.685G>T	c.(685-687)Ggg>Tgg	p.G229W	LRRC7_ENST00000035383.5_Missense_Mutation_p.G224W|LRRC7_ENST00000415775.2_5'UTR			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	224						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGTGTTACCTGGGGTATGTAA	0.343000													10	12					0.000442599	0.00049728	1	1	0
AUTS2	26053	broad.mit.edu	37	7	70246739	70246739	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:70246739G>T	ENST00000342771.4	+	15	2464	c.2143G>T	c.(2143-2145)Gct>Tct	p.A715S	AUTS2_ENST00000406775.2_Missense_Mutation_p.A691S	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	715										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GTTCTCTGCCGCTGGTGAGTG	0.557000													31	110					2.47511e-08	3.52977e-08	1	1	0
CCDC74B	91409	broad.mit.edu	37	2	130897508	130897508	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:130897508G>T	ENST00000392984.3	-	6	2012	c.1269C>A	c.(1267-1269)gcC>gcA	p.A423A	CCDC74B_ENST00000310463.6_Silent_p.A321A|CCDC74B_ENST00000409943.3_Silent_p.A255A			Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	321										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					GGAAATGCGTGGCTTCTTGGT	0.622000													28	51					1.75199e-13	2.91215e-13	1	1	0
C1orf173	127254	broad.mit.edu	37	1	75038591	75038591	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:75038591C>A	ENST00000326665.5	-	14	3021	c.2803G>T	c.(2803-2805)Ggt>Tgt	p.G935C	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	935	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GCCACCCCACCCTCAGCCTCT	0.552000													78	109					3.12118e-38	6.34836e-38	1	1	0
OR2H1	26716	broad.mit.edu	37	6	29429970	29429970	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:29429970C>G	ENST00000377136.1	+	4	889	c.424C>G	c.(424-426)Ctg>Gtg	p.L142V	OR2H1_ENST00000396792.2_Missense_Mutation_p.L142V|OR2H1_ENST00000377133.1_Missense_Mutation_p.L142V|OR2H1_ENST00000377132.1_Missense_Mutation_p.L142V|OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000442615.1_Missense_Mutation_p.L142V			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						GTGCTGGCAGCTGGCATCTGT	0.572000													94	207					0	0	1	0	0
ADSL	158	broad.mit.edu	37	22	40755029	40755029	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr22:40755029A>G	ENST00000216194.7	+	5	700	c.644A>G	c.(643-645)gAt>gGt	p.D215G	ADSL_ENST00000480775.1_3'UTR|ADSL_ENST00000342312.6_Missense_Mutation_p.D215G|ADSL_ENST00000454266.2_Missense_Mutation_p.D229G	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	215					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						TTTGAGGGAGATGACCATAAG	0.512000													9	31					0	0	1	0	0
C1orf141	400757	broad.mit.edu	37	1	67558822	67558822	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:67558822T>A	ENST00000371007.2	-	8	1178	c.1069A>T	c.(1069-1071)Acg>Tcg	p.T357S	C1orf141_ENST00000371006.1_Missense_Mutation_p.T357S|C1orf141_ENST00000544837.1_Missense_Mutation_p.T357S	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	357										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						GGTATGCTCGTTGGTTTTCCT	0.348000													15	29					0	0	1	0	0
IGFN1	91156	broad.mit.edu	37	1	201183364	201183364	+	Missense_Mutation	SNP	G	G	T	rs146903929	byFrequency	TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:201183364G>T	ENST00000335211.4	+	13	8918	c.8788G>T	c.(8788-8790)Gcc>Tcc	p.A2930S	IGFN1_ENST00000295591.8_Missense_Mutation_p.A90S|IGFN1_ENST00000451870.2_Missense_Mutation_p.A473S	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGGGGAGGCCGCCACACTCTC	0.637000													10	40					2.32078e-09	3.44842e-09	1	1	0
KLK1	3816	broad.mit.edu	37	19	51323215	51323215	+	Silent	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:51323215C>T	ENST00000448701.2	-	5	1591	c.267G>A	c.(265-267)caG>caA	p.Q89Q	KLK1_ENST00000301420.2_Silent_p.Q191Q			P06870	KLK1_HUMAN	kallikrein 1	191	Peptidase S1.				proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGTCACCTTCTGGACGTGGG	0.552000													14	52					0	0	1	0	0
BMP1	649	broad.mit.edu	37	8	22033772	22033772	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:22033772G>T	ENST00000306385.5	+	3	1049	c.379G>T	c.(379-381)Gag>Tag	p.E127*	BMP1_ENST00000523849.1_3'UTR|BMP1_ENST00000397814.3_Nonsense_Mutation_p.E127*|BMP1_ENST00000397816.3_Nonsense_Mutation_p.E127*|BMP1_ENST00000354870.5_Nonsense_Mutation_p.E127*|BMP1_ENST00000306349.8_Nonsense_Mutation_p.E127*	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	127	Metalloprotease.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GTCCCGACCAGAGCGTGTGTG	0.642000													14	19					6.72482e-11	1.05045e-10	1	1	0
PRUNE	58497	broad.mit.edu	37	1	151001290	151001290	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:151001290C>A	ENST00000271620.3	+	7	959	c.803C>A	c.(802-804)gCa>gAa	p.A268E	PRUNE_ENST00000467771.1_3'UTR|PRUNE_ENST00000368935.1_Intron|PRUNE_ENST00000368936.1_Missense_Mutation_p.A86E|PRUNE_ENST00000368937.1_Intron|PRUNE_ENST00000271619.8_Intron|PRUNE_ENST00000368934.1_Intron	NM_021222.1	NP_067045.1	Q86TP1	PRUNE_HUMAN	prune exopolyphosphatase	268						cytoplasm|focal adhesion|nucleus	inorganic diphosphatase activity|manganese ion binding|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|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)			AACCTCCTTGCAGATCTCCAT	0.488000													28	146					1.5548e-18	2.83984e-18	1	1	0
SUV420H1	51111	broad.mit.edu	37	11	67942604	67942604	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:67942604C>G	ENST00000304363.4	-	5	777	c.424G>C	c.(424-426)Gaa>Caa	p.E142Q	SUV420H1_ENST00000402185.2_Missense_Mutation_p.E119Q|SUV420H1_ENST00000401547.2_Missense_Mutation_p.E142Q|SUV420H1_ENST00000402789.1_Missense_Mutation_p.E142Q|SUV420H1_ENST00000405515.1_Missense_Mutation_p.E142Q	NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TTAAAACGTTCAATTACTTCC	0.393000													5	11					0	0	1	0	0
TRIML1	339976	broad.mit.edu	37	4	189063457	189063457	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr4:189063457C>A	ENST00000332517.3	+	3	696	c.556C>A	c.(556-558)Cac>Aac	p.H186N	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	186					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CATGAAAATGCACCAGTTCCT	0.443000													5	8					0.014758	0.0154892	1	1	0
CDH9	1007	broad.mit.edu	37	5	26915765	26915765	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:26915765C>A	ENST00000231021.4	-	3	668	c.496G>T	c.(496-498)Gcc>Tcc	p.A166S		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	166	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GGAACACTGGCAGTGTATAAG	0.358000													26	17					7.92952e-12	1.26945e-11	1	1	0
NAT10	55226	broad.mit.edu	37	11	34144129	34144129	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:34144129G>T	ENST00000257829.3	+	9	1110	c.904G>T	c.(904-906)Gtg>Ttg	p.V302L	NAT10_ENST00000531159.2_Missense_Mutation_p.V230L|NAT10_ENST00000527971.1_Intron	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	302						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				TGCTGGGGCGGTGGCATTTGG	0.572000													6	29					0.00116845	0.00128212	1	1	0
TRBV6-9	28598	broad.mit.edu	37	7	142104244	142104244	+	RNA	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:142104244G>C	ENST00000390379.1	-	0	220																											TCCTTTGTCAGTGATACCAGC	0.522000													36	184					0	0	1	0	0
LRIT2	340745	broad.mit.edu	37	10	85981726	85981726	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:85981726T>C	ENST00000372113.4	-	3	1608	c.1603A>G	c.(1603-1605)Ata>Gta	p.I535V	LRIT2_ENST00000538192.1_Missense_Mutation_p.I545V	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	535						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						TCAGTGTCTATGTGCCCTTCA	0.572000													72	85					0	0	1	0	0
HIST1H1C	3006	broad.mit.edu	37	6	26056572	26056572	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:26056572C>T	ENST00000343677.2	-	1	127	c.85G>A	c.(85-87)Ggg>Agg	p.G29R		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	29					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						GGCGTACCCCCAGCCTTTTTG	0.607000													10	86					0	0	1	0	0
RABGAP1	23637	broad.mit.edu	37	9	125751748	125751748	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:125751748G>C	ENST00000373647.4	+	5	897	c.763G>C	c.(763-765)Gct>Cct	p.A255P		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	255	PID.				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding	p.A255T(1)|p.A183T(1)		breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						AATACAAGAAGCTGTAAGTCC	0.403000													3	12					0	0	1	0	0
SOD2	6648	broad.mit.edu	37	6	160106041	160106041	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:160106041C>T	ENST00000538183.1	-	4	528	c.368G>A	c.(367-369)cGt>cAt	p.R123H	SOD2_ENST00000367055.4_Missense_Mutation_p.R123H|SOD2_ENST00000337404.4_Missense_Mutation_p.R84H|SOD2_ENST00000546087.1_Missense_Mutation_p.R77H|SOD2_ENST00000444946.2_Intron|SOD2_ENST00000367054.2_Missense_Mutation_p.R84H	NM_000636.2	NP_000627.2	P04179	SODM_HUMAN	superoxide dismutase 2, mitochondrial	123				R -> L (in Ref. 3; CAA30687).	age-dependent response to reactive oxygen species|negative regulation of neuron apoptosis|oxygen homeostasis|protein homotetramerization|regulation of transcription from RNA polymerase II promoter|release of cytochrome c from mitochondria|removal of superoxide radicals|vasodilation by acetylcholine involved in regulation of systemic arterial blood pressure		manganese ion binding|superoxide dismutase activity	p.R123H(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(3)|skin(1)	14		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.103)		OV - Ovarian serous cystadenocarcinoma(65;1.4e-18)|BRCA - Breast invasive adenocarcinoma(81;5.77e-06)		ACCAAAGTCACGTTTGATGGC	0.403000													15	44					0	0	1	0	0
PRSS58	136541	broad.mit.edu	37	7	141954943	141954943	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:141954943G>T	ENST00000552471.1	-	3	687	c.368C>A	c.(367-369)cCc>cAc	p.P123H	PRSS58_ENST00000547058.2_Missense_Mutation_p.P123H			Q8IYP2	PRS58_HUMAN	protease, serine, 58	123	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						AGTTTGGTAGGGCAGGTTGGC	0.408000													23	33					7.41877e-09	1.07746e-08	1	1	0
SYT3	84258	broad.mit.edu	37	19	51133391	51133391	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:51133391G>T	ENST00000338916.4	-	3	1345	c.712C>A	c.(712-714)Ctg>Atg	p.L238M	SYT3_ENST00000544769.1_Missense_Mutation_p.L238M|SYT3_ENST00000600079.1_Missense_Mutation_p.L238M|SYT3_ENST00000593901.1_Missense_Mutation_p.L238M	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	238						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		TGGGAGGTCAGAGTCTGCTGG	0.627000													18	18					5.01169e-05	5.95439e-05	1	1	0
DNAH10	196385	broad.mit.edu	37	12	124326001	124326001	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:124326001G>T	ENST00000409039.3	+	29	4940	c.4915G>T	c.(4915-4917)Gac>Tac	p.D1639Y		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1639	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCGCGTGGAGGACTGGATGAC	0.468000													28	128					2.12542e-12	3.46327e-12	1	1	0
ZBED2	79413	broad.mit.edu	37	3	111312865	111312865	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:111312865G>T	ENST00000317012.4	-	2	1192	c.184C>A	c.(184-186)Cac>Aac	p.H62N	CD96_ENST00000283285.5_Intron|CD96_ENST00000352690.4_Intron|CD96_ENST00000438817.2_Intron	NM_024508.4	NP_078784.2	Q9BTP6	ZBED2_HUMAN	zinc finger, BED-type containing 2	62							DNA binding|metal ion binding			large_intestine(3)|lung(1)|skin(2)	6						GGAGCTAGGTGGAAATATTCC	0.602000													51	84					1.51926e-22	2.89676e-22	1	1	0
CHAF1B	8208	broad.mit.edu	37	21	37758467	37758467	+	Silent	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr21:37758467C>T	ENST00000314103.4	+	2	184	c.33C>T	c.(31-33)caC>caT	p.H11H	CHAF1B_ENST00000480486.1_3'UTR	NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	11					cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						TAGCCTGGCACAACAAGGAGC	0.542000													27	58					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152187527	152187527	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:152187527C>A	ENST00000368801.2	-	3	6653	c.6578G>T	c.(6577-6579)gGg>gTg	p.G2193V	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2193					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)			GGAGGAGTGCCCCGAACCGGA	0.637000													254	1392					2.38067e-61	4.94053e-61	1	1	0
PKHD1	5314	broad.mit.edu	37	6	51907695	51907695	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:51907695C>A	ENST00000371117.3	-	27	3334	c.3059G>T	c.(3058-3060)aGa>aTa	p.R1020I	PKHD1_ENST00000340994.4_Missense_Mutation_p.R1020I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1020	IPT/TIG 5.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CATATCCAGTCTAGGTTTCAC	0.498000													11	31					0.000673444	0.000748415	1	1	0
ST6GAL2	84620	broad.mit.edu	37	2	107460199	107460199	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:107460199C>A	ENST00000409382.3	-	2	845	c.235G>T	c.(235-237)Gcg>Tcg	p.A79S	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.A79S|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.A79S	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	79					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CGGGGCAGCGCCTGGCGTGCG	0.667000													16	65					1.3612e-06	1.76977e-06	1	1	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		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	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			6	2					1	1	1	1	0
MXRA5	25878	broad.mit.edu	37	X	3241506	3241506	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chrX:3241506C>A	ENST00000217939.6	-	5	2374	c.2220G>T	c.(2218-2220)ggG>ggT	p.G740G		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	740						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)				GCTTTCTTCTCCCTTTCTTGG	0.438000													8	18					1.12685e-05	1.38035e-05	1	1	0
POU3F4	5456	broad.mit.edu	37	X	82763472	82763472	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chrX:82763472C>A	ENST00000373200.2	+	1	204	c.140C>A	c.(139-141)cCc>cAc	p.P47H	RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298.2	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	47					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						CAGGGAGTTCCCAGCAATGGG	0.622000													7	16					8.12818e-05	9.53963e-05	1	1	0
MTHFR	4524	broad.mit.edu	37	1	11852411	11852411	+	Missense_Mutation	SNP	C	C	A	rs45449298	byFrequency	TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:11852411C>A	ENST00000376592.1	-	9	1684	c.1556G>T	c.(1555-1557)cGc>cTc	p.R519L	MTHFR_ENST00000376583.3_Missense_Mutation_p.R560L|MTHFR_ENST00000376585.1_Missense_Mutation_p.R560L|MTHFR_ENST00000376590.3_Missense_Mutation_p.R519L			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	519			R -> C (in dbSNP:rs45496998).|R -> H (in dbSNP:rs45449298).		blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	CGCTGTCTCGCGGGAAGTGAA	0.562000													30	48					2.12542e-12	3.46327e-12	1	1	0
LAMA1	284217	broad.mit.edu	37	18	7025980	7025980	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr18:7025980G>T	ENST00000389658.3	-	17	2493	c.2400C>A	c.(2398-2400)aaC>aaA	p.N800K		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	800	Laminin EGF-like 7.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGCTTACTTGTTGGAGGCTA	0.592000													21	13					3.8784e-16	6.82552e-16	1	1	0
LAMC3	10319	broad.mit.edu	37	9	133945109	133945109	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:133945109G>T	ENST00000361069.4	+	17	3074	c.2941G>T	c.(2941-2943)Ggc>Tgc	p.G981C	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	981	Laminin EGF-like 11.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCACGAGAACGGCACATGCGT	0.657000													4	7					1	1	1	1	0
AKAP3	10566	broad.mit.edu	37	12	4737038	4737038	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:4737038C>G	ENST00000545990.2	-	5	1554	c.1030G>C	c.(1030-1032)Gtc>Ctc	p.V344L	AKAP3_ENST00000228850.1_Missense_Mutation_p.V344L	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	344					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GTCCCTGTGACGCTGTGGAGA	0.493000													9	39					0	0	1	0	0
SCTR	6344	broad.mit.edu	37	2	120206314	120206314	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:120206314T>C	ENST00000019103.5	-	10	1231	c.964A>G	c.(964-966)Aga>Gga	p.R322G		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	322					digestion|excretion	integral to plasma membrane	secretin receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	CTAAGTTTTCTCATCAGGATT	0.418000													3	11					0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87178809	87178809	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:87178809C>T	ENST00000265724.3	-	15	1997	c.1580G>A	c.(1579-1581)aGa>aAa	p.R527K	ABCB1_ENST00000543898.1_Missense_Mutation_p.R463K	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	527	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CTGGGCCCCTCTCTCTCCAAC	0.507000													14	98					0	0	1	0	0
OR51Q1	390061	broad.mit.edu	37	11	5444177	5444177	+	Silent	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:5444177T>A	ENST00000300778.4	+	1	837	c.747T>A	c.(745-747)gcT>gcA	p.A249A	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATTCTAGCTGTCCTGGTCC	0.488000													18	40					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34148685	34148685	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chrX:34148685C>G	ENST00000346193.3	-	1	1762	c.1711G>C	c.(1711-1713)Gag>Cag	p.E571Q		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	571								p.E571*(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TTGGGAGGCTCCGAGAATTGA	0.522000													23	18					0	0	1	0	0
MAPK9	5601	broad.mit.edu	37	5	179688755	179688755	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:179688755T>A	ENST00000452135.2	-	5	677	c.379A>T	c.(379-381)Aga>Tga	p.R127*	MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000524170.1_5'UTR|MAPK9_ENST00000347470.4_Nonsense_Mutation_p.R127*|MAPK9_ENST00000343111.6_Nonsense_Mutation_p.R127*|MAPK9_ENST00000393360.3_Nonsense_Mutation_p.R127*|MAPK9_ENST00000425491.2_Nonsense_Mutation_p.R127*|MAPK9_ENST00000539014.1_Nonsense_Mutation_p.R127*|MAPK9_ENST00000455781.1_Nonsense_Mutation_p.R127*			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	127	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TAGGACATTCTTTCATGATCC	0.333000													17	26					0	0	1	0	0
SLC6A13	6540	broad.mit.edu	37	12	344284	344284	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:344284G>C	ENST00000343164.4	-	7	855	c.803C>G	c.(802-804)cCa>cGa	p.P268R	SLC6A13_ENST00000445055.2_Missense_Mutation_p.P176R	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	268					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CGTGAGGTTTGGGTACAGGTA	0.557000													13	94					0	0	1	0	0
POMGNT2	84892	broad.mit.edu	37	3	43122519	43122519	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:43122519C>A	ENST00000344697.2	-	2	750	c.405G>T	c.(403-405)ctG>ctT	p.L135L	GTDC2_ENST00000441964.1_Silent_p.L135L	NM_032806.4	NP_116195.2																					CAGCAGCAGGCAGCTCCACGA	0.622000													20	83					1.96292e-10	3.01467e-10	1	1	0
HLF	3131	broad.mit.edu	37	17	53398224	53398224	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:53398224G>A	ENST00000226067.5	+	4	1345	c.872G>A	c.(871-873)aGg>aAg	p.R291K	HLF_ENST00000575345.1_Missense_Mutation_p.R206K|HLF_ENST00000430986.2_Missense_Mutation_p.R206K|HLF_ENST00000575307.1_3'UTR|HLF_ENST00000573945.1_Missense_Mutation_p.R206K	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN	hepatic leukemia factor	291					multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(2)	3						TATGAGGCCAGGCACGGGCCC	0.537000			T	TCF3	ALL								8	30					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39448656	39448656	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr13:39448656G>T	ENST00000280481.7	+	18	8430	c.8214G>T	c.(8212-8214)gaG>gaT	p.E2738D		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2738					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)		TCGGTGATGAGGGGCGCTTGG	0.483000													17	50					3.52763e-06	4.44666e-06	1	1	0
DTX2	113878	broad.mit.edu	37	7	76109955	76109955	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:76109955G>T	ENST00000324432.5	+	4	639	c.129G>T	c.(127-129)gaG>gaT	p.E43D	DTX2_ENST00000413936.2_Missense_Mutation_p.E43D|DTX2_ENST00000446820.2_Missense_Mutation_p.E43D|DTX2_ENST00000430490.2_Missense_Mutation_p.E43D|DTX2_ENST00000472426.1_3'UTR|DTX2_ENST00000446600.1_Intron|DTX2_ENST00000307569.8_Missense_Mutation_p.E43D	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	43	WWE 1.				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						GCTTCATCGAGCAGCAGTTTG	0.647000													10	46					1.76689e-08	2.526e-08	1	1	0
TSKS	60385	broad.mit.edu	37	19	50245236	50245236	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:50245236A>T	ENST00000246801.3	-	9	1485	c.1403T>A	c.(1402-1404)cTg>cAg	p.L468Q	TSKS_ENST00000358830.3_Missense_Mutation_p.L268Q	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	468							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		TGCTCGGTCCAGCAGCTGCTG	0.612000													44	45					0	0	1	0	0
CTNNA1	1495	broad.mit.edu	37	5	138223191	138223191	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:138223191G>T	ENST00000302763.7	+	9	1246	c.1156G>T	c.(1156-1158)Gtc>Ttc	p.V386F	CTNNA1_ENST00000520400.1_3'UTR|CTNNA1_ENST00000518825.1_Missense_Mutation_p.V386F|CTNNA1_ENST00000540387.1_Missense_Mutation_p.V16F|CTNNA1_ENST00000355078.5_Missense_Mutation_p.V283F	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	386	Interaction with alpha-actinin.				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CCGCAAAGCTGTCATGGACCA	0.318000													4	19					0.00024832	0.000283026	1	1	0
KIAA1551	55196	broad.mit.edu	37	12	32135000	32135000	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:32135000A>T	ENST00000312561.4	+	4	1525	c.1111A>T	c.(1111-1113)Aaa>Taa	p.K371*	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551																		TAATGAAGAGAAAATAATGGA	0.348000													11	36					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77775753	77775753	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:77775753C>T	ENST00000521891.2	+	11	10251	c.9803C>T	c.(9802-9804)cCt>cTt	p.P3268L	ZFHX4_ENST00000455469.2_Missense_Mutation_p.P3223L|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P3242L|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P3219L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3219						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TACTTTATCCCTGGGTTTGCT	0.493000										HNSCC(33;0.089)			34	89					0	0	1	0	0
ALOX12B	242	broad.mit.edu	37	17	7983352	7983352	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:7983352G>T	ENST00000399413.3	+	2	273	c.33G>T	c.(31-33)agG>agT	p.R11S	ALOX12B_ENST00000319144.4_Intron																endometrium(2)	2						GCACCGAGAGGAGTCGGGGAG	0.701000											OREG0024153	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	3					0.00316338	0.00340024	1	1	0
POU3F4	5456	broad.mit.edu	37	X	82763608	82763608	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chrX:82763608G>T	ENST00000373200.2	+	1	340	c.276G>T	c.(274-276)gcG>gcT	p.A92A	RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298.2	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	92					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						AACTGGGTGCGATCATCCATC	0.677000													4	17					0.150653	0.153301	1	1	0
PRKD3	23683	broad.mit.edu	37	2	37505040	37505040	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:37505040C>A	ENST00000379066.1	-	9	2027	c.1265G>T	c.(1264-1266)tGg>tTg	p.W422L	PRKD3_ENST00000234179.2_Missense_Mutation_p.W422L			O94806	KPCD3_HUMAN	protein kinase D3	422	PH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				ATGGACCATCCACCCTTCCTT	0.383000													5	31					0.0215528	0.0224443	1	1	0
CNTNAP4	85445	broad.mit.edu	37	16	76528951	76528951	+	Missense_Mutation	SNP	A	A	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr16:76528951A>C	ENST00000307431.8	+	15	2607	c.2222A>C	c.(2221-2223)gAc>gCc	p.D741A	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.D693A|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.D669A|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.D745A	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	742	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TGTGATGCTGACCGGAATGAA	0.358000													18	6					0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140562796	140562796	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:140562796C>A	ENST00000361016.2	+	1	1817	c.662C>A	c.(661-663)cCg>cAg	p.P221Q		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		221	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCTCTCCACCGCGATCTGGA	0.517000													39	48					1.67305e-13	2.79431e-13	1	1	0
DNMBP	23268	broad.mit.edu	37	10	101716642	101716642	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:101716642C>A	ENST00000342239.3	-	4	680	c.589G>T	c.(589-591)Ggt>Tgt	p.G197C	DNMBP_ENST00000324109.4_Missense_Mutation_p.G197C|DNMBP-AS1_ENST00000434409.1_RNA			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	197	SH3 3.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TCTACAAAACCTTCTGGAAAA	0.488000													18	121					5.01169e-05	5.95439e-05	1	1	0
TIAM1	7074	broad.mit.edu	37	21	32537369	32537369	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr21:32537369G>T	ENST00000286827.3	-	17	3372	c.2901C>A	c.(2899-2901)tgC>tgA	p.C967*	TIAM1_ENST00000541036.1_Nonsense_Mutation_p.C907*	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	967					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CCTGCTCGCTGCAAAGGCTGT	0.532000													15	15					1.05317e-09	1.57703e-09	1	1	0
HDAC4	9759	broad.mit.edu	37	2	240036915	240036915	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:240036915T>A	ENST00000345617.3	-	13	2401	c.1610A>T	c.(1609-1611)gAc>gTc	p.D537V	HDAC4_ENST00000543185.1_Missense_Mutation_p.D121V|HDAC4_ENST00000541256.1_Missense_Mutation_p.D511V	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	537					B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GTAGGGCTCGTCCAGCAGAGC	0.682000													30	87					0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26512829	26512829	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:26512829C>A	ENST00000376261.3	+	5	1037	c.534C>A	c.(532-534)taC>taA	p.Y178*	GAD2_ENST00000376248.1_Nonsense_Mutation_p.Y64*|GAD2_ENST00000259271.3_Nonsense_Mutation_p.Y178*	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	178					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	ATCCTAGATACTTCAATCAAC	0.383000													3	17					2.56e-06	3.26006e-06	1	1	0
KALRN	8997	broad.mit.edu	37	3	124201664	124201664	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:124201664C>G	ENST00000360013.3	+	28	4322	c.4195C>G	c.(4195-4197)Cag>Gag	p.Q1399E	KALRN_ENST00000240874.3_Missense_Mutation_p.Q1399E|KALRN_ENST00000460856.1_Missense_Mutation_p.Q1390E	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1399	DH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGAGATACAACAGCGGCATGG	0.507000													7	63					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564578	176564578	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:176564578G>C	ENST00000367662.3	+	3	3002	c.1838G>C	c.(1837-1839)cGc>cCc	p.R613P	PAPPA2_ENST00000367661.3_Missense_Mutation_p.R613P	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	613	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.R613H(2)		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						GGTGACTGCCGCCTGCAGGGC	0.587000													36	100					0	0	1	0	0
RAD51D	5892	broad.mit.edu	37	17	33434071	33434071	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:33434071C>A	ENST00000345365.6	-	5	671	c.416G>T	c.(415-417)gGa>gTa	p.G139V	RAD51D_ENST00000590380.1_5'UTR|RAD51D_ENST00000590016.1_Missense_Mutation_p.G159V|RAD51D_ENST00000460118.2_Missense_Mutation_p.G20V|RAD51L3-RFFL_ENST00000593039.1_Intron|RAD51D_ENST00000394589.4_Missense_Mutation_p.G139V|RAD51D_ENST00000360276.3_Intron|RAD51D_ENST00000335858.7_Intron	NM_002878.3	NP_002869.3	O75771	RA51D_HUMAN	RAD51 paralog D	139					DNA repair|reciprocal meiotic recombination	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TGTCAGCCCTCCATTGGAATC	0.537000								Direct reversal of damage					57	89					6.4308e-24	1.23839e-23	1	1	0
CCND2	894	broad.mit.edu	37	12	4387953	4387953	+	Silent	SNP	T	T	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:4387953T>C	ENST00000261254.3	+	3	708	c.439T>C	c.(439-441)Ttg>Ctg	p.L147L		NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	147	Cyclin N-terminal.				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			GCTGGGGAAGTTGAAGTGGAA	0.572000			T	IGL@	"""NHL,CLL"""								16	78					0	0	1	0	0
IGKV2D-24	28885	broad.mit.edu	37	2	90044384	90044384	+	RNA	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:90044384G>A	ENST00000462693.1	+	0	335																											AAAATCAGCAGGGTGGAAGCT	0.507000													31	123					0	0	1	0	0
PGBD1	84547	broad.mit.edu	37	6	28268892	28268892	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:28268892G>T	ENST00000405948.2	+	7	1681	c.1261G>T	c.(1261-1263)Gag>Tag	p.E421*	PGBD1_ENST00000259883.3_Nonsense_Mutation_p.E421*	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	421					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						GAACCCAGTAGAGCTTTTTGA	0.353000													12	36					0.00136819	0.00149657	1	1	0
FBN2	2201	broad.mit.edu	37	5	127710429	127710429	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:127710429G>T	ENST00000508053.1	-	21	2961	c.1987C>A	c.(1987-1989)Cag>Aag	p.Q663K	FBN2_ENST00000511489.1_5'UTR|FBN2_ENST00000262464.4_Missense_Mutation_p.Q663K|FBN2_ENST00000508989.1_Missense_Mutation_p.Q630K			P35556	FBN2_HUMAN	fibrillin 2	663	EGF-like 10; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CCTGGGGTCTGGCATTCATCA	0.512000													10	54					7.48243e-07	9.81645e-07	1	1	0
MAP1B	4131	broad.mit.edu	37	5	71495809	71495809	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:71495809C>G	ENST00000296755.7	+	5	6925	c.6627C>G	c.(6625-6627)agC>agG	p.S2209R		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2209						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAGACCGCAGCCCTTCGCCAC	0.542000													26	173					0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12837586	12837586	+	Silent	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:12837586T>A	ENST00000357726.4	+	3	1323	c.1296T>A	c.(1294-1296)ctT>ctA	p.L432L		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	432										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	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;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTTCTCAACTTGGGGCTGAGC	0.562000													33	149					0	0	1	0	0
SLC5A4	6527	broad.mit.edu	37	22	32647776	32647776	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr22:32647776G>T	ENST00000266086.4	-	3	304	c.293C>A	c.(292-294)aCc>aAc	p.T98N	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	98					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AAATGTTACGGTGGCGACTCC	0.468000													13	38					9.31168e-06	1.1512e-05	1	1	0
GPR78	27201	broad.mit.edu	37	4	8588930	8588930	+	Missense_Mutation	SNP	G	G	A	rs140970706	byFrequency	TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr4:8588930G>A	ENST00000382487.4	+	3	1349	c.932G>A	c.(931-933)cGg>cAg	p.R311Q	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	311					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						ATGGTGCACCGGCTGCTGAAG	0.667000													6	96					0	0	1	0	0
SV2C	22987	broad.mit.edu	37	5	75427818	75427818	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:75427818G>T	ENST00000502798.2	+	2	685	c.243G>T	c.(241-243)ggG>ggT	p.G81G	SV2C_ENST00000322285.7_Silent_p.G81G	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	81					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CCACTGAGGGGCATGATGAAG	0.527000													16	34					6.31663e-08	8.74261e-08	1	1	0
GPR78	27201	broad.mit.edu	37	4	8588947	8588947	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr4:8588947C>A	ENST00000382487.4	+	3	1366	c.949C>A	c.(949-951)Ccg>Acg	p.P317T	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	317					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						GAAGAGAACCCCGCGCCCAGC	0.672000													12	93					4.3838e-07	5.84395e-07	1	1	0
FOXG1	2290	broad.mit.edu	37	14	29237645	29237645	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr14:29237645C>A	ENST00000382535.3	+	2	1529	c.1160C>A	c.(1159-1161)tCg>tAg	p.S387*	FOXG1_ENST00000313071.4_Nonsense_Mutation_p.S387*			P55316	FOXG1_HUMAN	forkhead box G1	387	Interaction with KDM5B.				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CTAGCCGCCTCGGTGCCCTGC	0.687000													50	44					4.18559e-23	8.03355e-23	1	1	0
CD46	4179	broad.mit.edu	37	1	207925435	207925435	+	Translation_Start_Site	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:207925435G>A	ENST00000358170.2	+	0	34				CD46_ENST00000354848.1_De_novo_Start_OutOfFrame|CD46_ENST00000357714.1_De_novo_Start_OutOfFrame|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000441839.2_De_novo_Start_OutOfFrame|CD46_ENST00000367042.1_De_novo_Start_OutOfFrame|CD46_ENST00000367041.1_De_novo_Start_OutOfFrame|CD46_ENST00000367047.1_De_novo_Start_OutOfFrame|CD46_ENST00000361067.1_De_novo_Start_OutOfFrame|CD46_ENST00000322875.4_De_novo_Start_OutOfFrame|CD46_ENST00000322918.5_De_novo_Start_OutOfFrame	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein						complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						TGCAGCACTGGATGCTTTGTG	0.667000													79	100					0	0	1	0	0
CAPG	822	broad.mit.edu	37	2	85628669	85628669	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:85628669G>A	ENST00000263867.4	-	4	583	c.334C>T	c.(334-336)Cgg>Tgg	p.R112W	CAPG_ENST00000483659.1_5'UTR|CAPG_ENST00000409724.1_Missense_Mutation_p.R112W|CAPG_ENST00000409921.1_Missense_Mutation_p.R112W|CAPG_ENST00000409670.1_Missense_Mutation_p.R112W	NM_001256140.1|NM_001747.3	NP_001243069.1|NP_001738.2	P40121	CAPG_HUMAN	capping protein (actin filament), gelsolin-like	112					barbed-end actin filament capping|protein complex assembly	F-actin capping protein complex|melanosome|nuclear membrane|nucleolus	actin binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)	11						TTGAGGCCCCGTGGGAAGTAG	0.632000													17	77					0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48762201	48762201	+	Silent	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:48762201G>A	ENST00000285238.8	+	29	4325	c.4245G>A	c.(4243-4245)ctG>ctA	p.L1415L		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1415	ABC transporter 2.				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)	CGGCAGGCCTGGACTTCCAGT	0.612000													14	125					0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15302576	15302576	+	Missense_Mutation	SNP	T	T	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:15302576T>G	ENST00000263388.2	-	5	857	c.782A>C	c.(781-783)cAg>cCg	p.Q261P		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	261	EGF-like 6; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			AGGAGGGCACTGGCAGTTATA	0.607000													11	66					0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60504809	60504809	+	Silent	SNP	C	C	T	rs149231472	byFrequency	TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr20:60504809C>T	ENST00000360469.5	+	13	2236	c.2148C>T	c.(2146-2148)aaC>aaT	p.N716N	CDH4_ENST00000543233.1_Silent_p.N642N	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	716	Cadherin 5.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GTGATGACAACGGGGACTGCA	0.587000													19	133					0	0	1	0	0
PCOLCE2	26577	broad.mit.edu	37	3	142567309	142567309	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:142567309G>T	ENST00000295992.3	-	3	504	c.198C>A	c.(196-198)ccC>ccA	p.P66P	PCOLCE2_ENST00000485766.1_Silent_p.P66P	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	66	CUB 1.					extracellular region	collagen binding|heparin binding|peptidase activator activity			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						CTTTTCCTTCGGGAACCTGCC	0.413000													15	68					7.93312e-07	1.03608e-06	1	1	0
DYRK4	8798	broad.mit.edu	37	12	4721711	4721711	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:4721711G>T	ENST00000540757.2	+	12	1308	c.1148G>T	c.(1147-1149)tGg>tTg	p.W383L	DYRK4_ENST00000545342.1_Missense_Mutation_p.W20L|DYRK4_ENST00000010132.5_Missense_Mutation_p.W383L|DYRK4_ENST00000543431.1_Missense_Mutation_p.W383L	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	383	Protein kinase.					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			GGGTGCAGATGGGAACCTTCT	0.448000													54	49					9.87224e-16	1.71825e-15	1	1	0
PCDHGA7	56108	broad.mit.edu	37	5	140762546	140762546	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:140762546G>T	ENST00000518325.1	+	1	80	c.80G>T	c.(79-81)tGg>tTg	p.W27L	PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGAAGCCTGGGCAGGACGT	0.637000													55	46					2.01807e-28	4.01074e-28	1	1	0
ST6GAL2	84620	broad.mit.edu	37	2	107423228	107423228	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:107423228G>T	ENST00000409382.3	-	6	2106	c.1496C>A	c.(1495-1497)aCg>aAg	p.T499K	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.T499K	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	499					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						ATCCCCCTGCGTGCCCATGTT	0.597000													32	90					3.99451e-17	7.15305e-17	1	1	0
PCDH7	5099	broad.mit.edu	37	4	30724070	30724070	+	Silent	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr4:30724070G>A	ENST00000361762.2	+	1	2034	c.1026G>A	c.(1024-1026)caG>caA	p.Q342Q	PCDH7_ENST00000543491.1_Silent_p.Q342Q	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	342	Cadherin 3.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						TCAACGGGCAGATCGAATACG	0.682000													11	52					0	0	1	0	0
CXCL9	4283	broad.mit.edu	37	4	76928570	76928570	+	Silent	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr4:76928570G>A	ENST00000264888.5	-	1	71	c.33C>T	c.(31-33)ggC>ggT	p.G11G		NM_002416.1	NP_002407.1	Q07325	CXCL9_HUMAN	chemokine (C-X-C motif) ligand 9	11					cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space	chemokine activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GCAAGATGATGCCCAAGAGGA	0.398000													4	25					0	0	1	0	0
PAX2	5076	broad.mit.edu	37	10	102566275	102566275	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:102566275G>T	ENST00000370296.2	+	7	1324	c.774G>T	c.(772-774)caG>caT	p.Q258H	PAX2_ENST00000361791.3_Missense_Mutation_p.Q235H|PAX2_ENST00000355243.3_Missense_Mutation_p.Q235H|PAX2_ENST00000556085.1_Missense_Mutation_p.Q234H|PAX2_ENST00000428433.1_Missense_Mutation_p.Q258H|PAX2_ENST00000553492.1_3'UTR			Q02962	PAX2_HUMAN	paired box 2	258					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		CCTTCACCCAGCAGCAGCTGG	0.552000													40	317					1.47197e-15	2.54916e-15	1	1	0
WDR31	114987	broad.mit.edu	37	9	116085309	116085309	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:116085309C>A	ENST00000374193.4	-	6	697	c.451G>T	c.(451-453)Gga>Tga	p.G151*	WDR31_ENST00000374195.3_Nonsense_Mutation_p.G26*|WDR31_ENST00000341761.4_Nonsense_Mutation_p.G150*|WDR31_ENST00000461942.1_5'UTR	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	151										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						ACAGCCAATCCGGTGACCACC	0.537000													13	58					3.27435e-08	4.62779e-08	1	1	0
WBSCR17	64409	broad.mit.edu	37	7	71036376	71036376	+	Silent	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:71036376C>T	ENST00000333538.5	+	6	1703	c.1069C>T	c.(1069-1071)Ctg>Ttg	p.L357L	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	357	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				AAATATTGAACTGGGAATCAA	0.483000													7	51					0	0	1	0	0
CYFIP1	23191	broad.mit.edu	37	15	22939266	22939266	+	Splice_Site	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr15:22939266G>T	ENST00000313077.7	+	10	1117	c.992_splice	c.e10+1	p.R331_splice	CYFIP1_ENST00000560848.1_Splice_Site_p.R331_splice	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	331					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		AATAAATCTCGGTAGGAGGAG	0.453000													4	21					0.00024832	0.000283026	1	1	0
SLC6A2	6530	broad.mit.edu	37	16	55735808	55735808	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr16:55735808C>A	ENST00000379906.2	+	13	2047	c.1792C>A	c.(1792-1794)Cac>Aac	p.H598N	SLC6A2_ENST00000414754.3_Missense_Mutation_p.H542N|SLC6A2_ENST00000219833.8_Missense_Mutation_p.H598N|SLC6A2_ENST00000567238.1_Missense_Mutation_p.H493N|SLC6A2_ENST00000568943.1_Missense_Mutation_p.H598N|SLC6A2_ENST00000561820.1_Intron|SLC6A2_ENST00000566163.1_Missense_Mutation_p.H553N	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	598					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	AGAGAACGAGCACCACCTGGT	0.622000											OREG0023807	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	50					2.98393e-07	4.02102e-07	1	1	0
SPTA1	6708	broad.mit.edu	37	1	158614045	158614045	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:158614045G>C	ENST00000368148.3	-	30	4516	c.4336C>G	c.(4336-4338)Cag>Gag	p.Q1446E	SPTA1_ENST00000368147.3_Missense_Mutation_p.Q1446E	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1446					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATTATTACCTGGGCAGTGATT	0.358000													4	29					0	0	1	0	0
ADCY9	115	broad.mit.edu	37	16	4016222	4016222	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr16:4016222T>A	ENST00000294016.3	-	11	4154	c.3616A>T	c.(3616-3618)Atc>Ttc	p.I1206F		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1206					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 plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTCACCTGGATGCGGCACTCC	0.597000													83	144					0	0	1	0	0
RGS3	5998	broad.mit.edu	37	9	116357968	116357968	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:116357968G>T	ENST00000374140.2	+	25	3543	c.3334G>T	c.(3334-3336)Gtc>Ttc	p.V1112F	RGS3_ENST00000462403.1_Missense_Mutation_p.V225F|RGS3_ENST00000343817.5_Missense_Mutation_p.V831F|RGS3_ENST00000342620.5_Missense_Mutation_p.V82F|RGS3_ENST00000462143.1_Missense_Mutation_p.V433F|RGS3_ENST00000394646.3_Missense_Mutation_p.V505F|RGS3_ENST00000350696.5_Missense_Mutation_p.V1112F|RGS3_ENST00000374134.3_Missense_Mutation_p.V433F	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	1112	RGS.				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						CTTCAAGAAGGTCAAGTCACA	0.522000													16	66					0.000308642	0.000348577	1	1	0
CRIP3	401262	broad.mit.edu	37	6	43274007	43274007	+	Silent	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:43274007G>A	ENST00000372569.3	-	6	449	c.445C>T	c.(445-447)Ctg>Ttg	p.L149L	CRIP3_ENST00000274990.4_Silent_p.L149L	NM_206922.2	NP_996805.2	Q6Q6R5	CRIP3_HUMAN	cysteine-rich protein 3	149	LIM zinc-binding 2.					cytoplasm	zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			TGGCACCTCAGACACGGTCGG	0.547000													40	72					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110523110	110523110	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:110523110G>C	ENST00000378402.5	+	71	11604	c.11500G>C	c.(11500-11502)Ggc>Cgc	p.G3834R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3834					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)			TTACTTCACTGGCACCAGTCC	0.423000										HNSCC(38;0.096)			13	76					0	0	1	0	0
SLC7A14	57709	broad.mit.edu	37	3	170198696	170198696	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:170198696A>T	ENST00000231706.4	-	7	1690	c.1375T>A	c.(1375-1377)Tgt>Agt	p.C459S	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	459						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TCCTTCTCACAGTCAGCCAGA	0.502000													80	99					0	0	1	0	0
KLK8	11202	broad.mit.edu	37	19	51499457	51499457	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:51499457C>G	ENST00000600767.1	-	7	1130	c.641G>C	c.(640-642)gGc>gCc	p.G214A	KLK8_ENST00000347619.4_Missense_Mutation_p.G73A|KLK8_ENST00000598195.1_5'UTR|KLK8_ENST00000593490.1_Missense_Mutation_p.R28S|CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000391806.2_Missense_Mutation_p.G259A|KLK8_ENST00000320838.5_Missense_Mutation_p.R28S|KLK8_ENST00000291726.7_Missense_Mutation_p.G214A			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	214	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		CACCAGGGGGCCTCCAGAATC	0.567000													52	77					0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126746105	126746105	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:126746105G>T	ENST00000274473.6	+	10	1209	c.942G>T	c.(940-942)ggG>ggT	p.G314G	MEGF10_ENST00000418761.2_Silent_p.G314G|MEGF10_ENST00000503335.2_Silent_p.G314G|MEGF10_ENST00000508365.1_Silent_p.G314G	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	314	Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		GTCCTGTTGGGACCTATGGCG	0.517000													9	35					0.000274275	0.000310774	1	1	0
SHPRH	257218	broad.mit.edu	37	6	146275836	146275836	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:146275836T>A	ENST00000367503.3	-	2	1021	c.623A>T	c.(622-624)cAc>cTc	p.H208L	SHPRH_ENST00000367505.2_Missense_Mutation_p.H208L|SHPRH_ENST00000275233.7_Missense_Mutation_p.H208L|SHPRH_ENST00000438092.2_Missense_Mutation_p.H208L	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	208					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CTTGATAATGTGATTTCCTTC	0.373000													7	7					0	0	1	0	0
XXYLT1	152002	broad.mit.edu	37	3	194991420	194991420	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:194991420C>G	ENST00000310380.6	-	1	476	c.368G>C	c.(367-369)cGc>cCc	p.R123P		NM_152531.4	NP_689744.3	Q8NBI6	CC021_HUMAN	xyloside xylosyltransferase 1	123						integral to membrane	transferase activity, transferring glycosyl groups										CAGCAGTGAGCGCAGCGCGAC	0.692000													7	15					0	0	1	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95198209	95198209	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr4:95198209C>T	ENST00000354268.4	+	16	2054	c.1981C>T	c.(1981-1983)Cag>Tag	p.Q661*	SMARCAD1_ENST00000457823.2_Nonsense_Mutation_p.Q661*|SMARCAD1_ENST00000509418.1_Nonsense_Mutation_p.Q231*			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	661	Helicase ATP-binding.				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		CACACCTGTACAGAACAATCT	0.383000													6	22					0	0	1	0	0
CADM2	253559	broad.mit.edu	37	3	85961682	85961682	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:85961682T>C	ENST00000383699.3	+	6	1316	c.689T>C	c.(688-690)cTa>cCa	p.L230P	CADM2_ENST00000405615.2_Missense_Mutation_p.L223P|CADM2_ENST00000407528.2_Missense_Mutation_p.L221P	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	221	Ig-like C2-type 2.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		ATGCAGGTGCTAGAAATACAC	0.463000													11	35					0	0	1	0	0
IGKV6-21	28906	broad.mit.edu	37	2	89459495	89459495	+	RNA	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:89459495C>A	ENST00000390256.2	-	0	145																											GACTGAAAGTCTGGAGACTGA	0.438000													5	18					0.000274275	0.000310774	1	1	0
CD1B	910	broad.mit.edu	37	1	158299205	158299205	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:158299205C>A	ENST00000368168.3	-	4	948	c.841G>T	c.(841-843)Gtg>Ttg	p.V281L		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	281	Ig-like.				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)					CTGTGCTTCACCCGACAGGAC	0.557000													28	128					2.79863e-10	4.27925e-10	1	1	0
RPS6	6194	broad.mit.edu	37	9	19378835	19378835	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:19378835G>T	ENST00000380394.4	-	3	278	c.220C>A	c.(220-222)Cgc>Agc	p.R74S	RPS6_ENST00000380381.3_3'UTR|RPS6_ENST00000315377.4_Missense_Mutation_p.R43S|RPS6_ENST00000380384.1_Missense_Mutation_p.R43S	NM_001010.2	NP_001001.2	P62753	RS6_HUMAN	ribosomal protein S6	74					endocrine pancreas development|glucose homeostasis|insulin receptor signaling pathway|positive regulation of apoptosis|rRNA processing|TOR signaling cascade|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding			endometrium(3)|lung(2)|ovary(1)|urinary_tract(1)	7		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)		AGTAGCAGGCGGACACGGCCA	0.493000													3	24					6.4e-05	7.56927e-05	1	1	0
SPEN	23013	broad.mit.edu	37	1	16258537	16258537	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:16258537G>T	ENST00000375759.3	+	11	6006	c.5802G>T	c.(5800-5802)ttG>ttT	p.L1934F		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1934					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GAAAGAGATTGGAGCGAGAGC	0.587000													34	86					1.36615e-20	2.55711e-20	1	1	0
OPLAH	26873	broad.mit.edu	37	8	145111862	145111862	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:145111862C>A	ENST00000426825.1	-	12	1776	c.1695G>T	c.(1693-1695)caG>caT	p.Q565H	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	565							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	TGGGGAAGCCCTGGGCCTGCA	0.647000													15	7					7.93312e-07	1.03608e-06	1	1	0
MFSD9	84804	broad.mit.edu	37	2	103340370	103340370	+	Splice_Site	SNP	T	T	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:103340370T>C	ENST00000258436.5	-	5	471		c.e5-2			NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9						transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						TAAAAATACCTGCAAGGGGAT	0.443000													20	38					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186671914	186671914	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:186671914C>A	ENST00000343098.5	+	17	18148	c.18148C>A	c.(18148-18150)Cag>Aag	p.Q6050K	FSIP2_ENST00000424728.1_Missense_Mutation_p.Q5961K	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TTTCCAACGTCAGGTTAACTT	0.358000													7	31					2.0095e-06	2.57411e-06	1	1	0
TRIM58	25893	broad.mit.edu	37	1	248028072	248028072	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:248028072C>A	ENST00000366481.3	+	3	630	c.582C>A	c.(580-582)gcC>gcA	p.A194A		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	194						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	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)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCTTTCTGGCCCAGGAGGAGC	0.607000													23	24					6.44725e-10	9.76362e-10	1	1	0
KCNH8	131096	broad.mit.edu	37	3	19190273	19190273	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:19190273G>C	ENST00000328405.2	+	1	328	c.62G>C	c.(61-63)cGt>cCt	p.R21P		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	21	PAS.					integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						ATCGCCACCCGTTTTGACGGA	0.458000													13	40					0	0	1	0	0
PTPRN	5798	broad.mit.edu	37	2	220164870	220164870	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:220164870G>A	ENST00000295718.2	-	9	1513	c.1273C>T	c.(1273-1275)Cca>Tca	p.P425S	PTPRN_ENST00000423636.2_Missense_Mutation_p.P335S|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000409251.3_Missense_Mutation_p.P425S	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	425					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		ACAGGGCTTGGCACCTGCTGG	0.642000													51	65					0	0	1	0	0
GRM2	2912	broad.mit.edu	37	3	51749255	51749255	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:51749255C>T	ENST00000395052.3	+	4	1700	c.1466C>T	c.(1465-1467)tCa>tTa	p.S489L	GRM2_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	489					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	CCATGGGCCTCACCCTCAGCC	0.642000													9	37					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23527567	23527567	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:23527567C>A	ENST00000296682.3	+	11	2552	c.2370C>A	c.(2368-2370)aaC>aaA	p.N790K		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	790					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						ATAAGTCAAACCTCCTCAGTC	0.557000										HNSCC(3;0.000094)			177	111					5.03958e-58	1.04336e-57	1	1	0
ANKRD29	147463	broad.mit.edu	37	18	21214026	21214026	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr18:21214026C>G	ENST00000592179.1	-	5	572	c.418G>C	c.(418-420)Gac>Cac	p.D140H	ANKRD29_ENST00000322980.9_Missense_Mutation_p.D140H|ANKRD29_ENST00000284207.7_Missense_Mutation_p.D140H	NM_173505.2	NP_775776.2	Q8N6D5	ANR29_HUMAN	ankyrin repeat domain 29	140										breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TAAAGTTGGTCATGGATGTTT	0.493000													19	22					0	0	1	0	0
HDGFL1	154150	broad.mit.edu	37	6	22569876	22569876	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:22569876C>G	ENST00000510882.2	+	1	82	c.72C>G	c.(70-72)caC>caG	p.H24Q	HDGFL1_ENST00000230012.3_Missense_Mutation_p.H24Q			Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	24	PWWP.									kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					GCTATGCCCACTGGCCGGCGA	0.612000													17	84					0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160511111	160511111	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:160511111G>T	ENST00000356956.1	+	44	6779	c.6631G>T	c.(6631-6633)Gac>Tac	p.D2211Y		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	2211					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TGGAACCTCTGACAAGACCAA	0.483000													7	29					0.248553	0.250863	1	1	0
FBL	2091	broad.mit.edu	37	19	40331307	40331307	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:40331307C>A	ENST00000221801.3	-	2	244	c.131G>T	c.(130-132)gGa>gTa	p.G44V		NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	44	DMA/Gly-rich.				rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		tcctcctcgtccACGACCTCT	0.682000													8	30					0.000157383	0.000181765	1	1	0
FCRL3	115352	broad.mit.edu	37	1	157659673	157659673	+	Silent	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:157659673C>G	ENST00000368184.3	-	10	2016	c.1725G>C	c.(1723-1725)gcG>gcC	p.A575A	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Silent_p.A575A	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	575						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)					CCGTGATTCCCGCAGCGGTAA	0.557000													10	49					0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51515320	51515320	+	Silent	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:51515320G>A	ENST00000328188.1	+	1	39	c.39G>A	c.(37-39)ctG>ctA	p.L13L		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TTGTTTTGCTGGGGCTTACAG	0.328000													14	57					0	0	1	0	0
LINC01317	104355287	broad.mit.edu	37	2	33952547	33952547	+	RNA	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:33952547A>T	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA																							CAGCACCTTCAGCAGCCCCAG	0.637000													4	19					0	0	1	0	0
CRYBB3	1417	broad.mit.edu	37	22	25603131	25603131	+	Silent	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr22:25603131C>T	ENST00000215855.2	+	6	668	c.588C>T	c.(586-588)cgC>cgT	p.R196R	CRYBB3_ENST00000404334.1_3'UTR	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3	196	Beta/gamma crystallin 'Greek key' 4.				visual perception		protein binding|structural constituent of eye lens			large_intestine(2)|lung(2)|prostate(1)	5						CTGTGCGCCGCATCCGTGACC	0.672000													13	61					0	0	1	0	0
TTC16	158248	broad.mit.edu	37	9	130493068	130493068	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:130493068C>A	ENST00000373289.3	+	14	2086	c.2006C>A	c.(2005-2007)cCc>cAc	p.P669H	TTC16_ENST00000489226.1_3'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	669							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						AGCCATGGTCCCAGAAAAATC	0.577000													22	63					1.87028e-06	2.40821e-06	1	1	0
TNR	7143	broad.mit.edu	37	1	175328801	175328801	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:175328801T>A	ENST00000367674.1	-	15	3629	c.2921A>T	c.(2920-2922)aAg>aTg	p.K974M	TNR_ENST00000263525.2_Missense_Mutation_p.K974M	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	974	Fibronectin type-III 8.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CACTGGTGCCTTCCACTGCAG	0.498000													17	69					0	0	1	0	0
ERVFRD-1	405754	broad.mit.edu	37	6	11105234	11105234	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:11105234G>T	ENST00000472091.1	-	2	685	c.310C>A	c.(310-312)Cgc>Agc	p.R104S	SMIM13_ENST00000416247.2_Intron|ERVFRD-1_ENST00000542862.1_Missense_Mutation_p.R104S	NM_207582.2	NP_997465.1	P60508	EFRD1_HUMAN		104						integral to membrane|plasma membrane|virion				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(4)|stomach(1)	15						GGTTTCTGGCGGATATCAGGG	0.403000													23	50					1.28384e-07	1.7463e-07	1	1	0
UNC80	285175	broad.mit.edu	37	2	210650818	210650818	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:210650818G>T	ENST00000439458.1	+	5	709	c.629G>T	c.(628-630)aGt>aTt	p.S210I	UNC80_ENST00000272845.5_Missense_Mutation_p.S210I|UNC80_ENST00000478701.1_3'UTR	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	210						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						CGTCTGGCCAGTGGGCTTGTT	0.502000													6	67					3.59834e-05	4.2987e-05	1	1	0
OR51T1	401665	broad.mit.edu	37	11	4903378	4903378	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:4903378G>T	ENST00000380378.1	+	1	330	c.330G>T	c.(328-330)gtG>gtT	p.V110V	MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000322049.1_Silent_p.V83V|MMP26_ENST00000380390.1_Intron	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		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)		TTCCCACTGTGCTTGGTGTTC	0.473000													12	34					1.08611e-07	1.48315e-07	1	1	0
XPC	7508	broad.mit.edu	37	3	14199947	14199947	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:14199947C>A	ENST00000285021.7	-	9	1650	c.1436G>T	c.(1435-1437)gGg>gTg	p.G479V	XPC_ENST00000449060.2_Missense_Mutation_p.G442V	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	479	Arg/Lys-rich (basic).				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACTCTTGGACCCAGCCTTTGT	0.572000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				21	47					1.96292e-10	3.01467e-10	1	1	0
HCK	3055	broad.mit.edu	37	20	30689308	30689308	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr20:30689308C>A	ENST00000534862.1	+	14	1870	c.1507C>A	c.(1507-1509)Caa>Aaa	p.Q503K	HCK_ENST00000520553.1_Missense_Mutation_p.Q502K|HCK_ENST00000375852.2_Missense_Mutation_p.Q523K|HCK_ENST00000538448.1_Missense_Mutation_p.Q502K|HCK_ENST00000518730.1_Missense_Mutation_p.Q501K|HCK_ENST00000375862.2_Missense_Mutation_p.Q522K	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	523	Protein kinase.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GAGCCAGTACCAACAGCAGCC	0.632000													5	19					1	1	1	1	0
MYO18B	84700	broad.mit.edu	37	22	26351183	26351183	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr22:26351183G>C	ENST00000335473.7	+	39	6259	c.6009G>C	c.(6007-6009)atG>atC	p.M2003I	MYO18B_ENST00000407587.2_Missense_Mutation_p.M2004I|MYO18B_ENST00000536101.1_Missense_Mutation_p.M2003I	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2003	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TGATCAAGATGGGGGAGGAGC	0.627000													5	15					0	0	1	0	0
TFDP1	7027	broad.mit.edu	37	13	114292199	114292199	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr13:114292199G>T	ENST00000375370.5	+	11	1285	c.1073G>T	c.(1072-1074)aGg>aTg	p.R358M	TFDP1_ENST00000544902.1_Missense_Mutation_p.R329M|TFDP1_ENST00000538138.1_Splice_Site_p.S263_splice	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	358					cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	p.R358M(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			AACGGCACAAGGTTCTCTGCC	0.587000										TSP Lung(29;0.18)			42	41					2.35958e-20	4.39292e-20	1	1	0
GFOD1	54438	broad.mit.edu	37	6	13487030	13487030	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:13487030C>A	ENST00000379287.3	-	1	757	c.93G>T	c.(91-93)ctG>ctT	p.L31L	GFOD1_ENST00000603223.1_Silent_p.L31L|GFOD1-AS1_ENST00000446001.1_RNA	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	31						extracellular region	binding|oxidoreductase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			TGCGGCCCCACAGCGCCTTCA	0.642000													21	106					3.51602e-12	5.68123e-12	1	1	0
EPB41L3	23136	broad.mit.edu	37	18	5489096	5489096	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr18:5489096C>A	ENST00000341928.2	-	2	427	c.87G>T	c.(85-87)gcG>gcT	p.A29A	EPB41L3_ENST00000544123.1_Silent_p.A29A|EPB41L3_ENST00000540638.2_Silent_p.A29A|EPB41L3_ENST00000400111.3_Silent_p.A29A|EPB41L3_ENST00000342933.3_Silent_p.A29A	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	29					cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						cgggcgcccccgcgcgcccct	0.716000													8	23					0.00307968	0.00331849	1	1	0
QKI	9444	broad.mit.edu	37	6	163876388	163876388	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:163876388G>T	ENST00000361752.3	+	2	771	c.220G>T	c.(220-222)Gat>Tat	p.D74Y	QKI_ENST00000275262.7_Missense_Mutation_p.D74Y|QKI_ENST00000392127.2_Missense_Mutation_p.D74Y|QKI_ENST00000361195.2_Missense_Mutation_p.D74Y|QKI_ENST00000453779.2_Missense_Mutation_p.D74Y|QKI_ENST00000424802.3_Missense_Mutation_p.D74Y	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	74					mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		AGAATTGCCTGATGCTGTGGG	0.328000													9	27					3.09899e-07	4.1471e-07	1	1	0
JAG1	182	broad.mit.edu	37	20	10653406	10653406	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr20:10653406C>A	ENST00000254958.5	-	2	845	c.330G>T	c.(328-330)aaG>aaT	p.K110N		NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	110					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						CGCGGCTGGCCTTGAGGTTGA	0.667000									Alagille Syndrome				6	95					0.000157383	0.000181765	1	1	0
ZNRF4	148066	broad.mit.edu	37	19	5456379	5456379	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:5456379A>T	ENST00000222033.4	+	1	954	c.877A>T	c.(877-879)Acc>Tcc	p.T293S		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	293						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GAAGACGTCTACCTGCCAGAA	0.617000													29	66					0	0	1	0	0
RPL31P11	641311	broad.mit.edu	37	1	161654843	161654843	+	RNA	SNP	C	C	G	rs1256288	by1000genomes	TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:161654843C>G	ENST00000426558.1	-	0	199					NR_002595.1																						CTCCTTCATGCCAAATTTCCG	0.507000													3	23					0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176002180	176002180	+	Silent	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:176002180C>T	ENST00000510636.1	+	8	865	c.591C>T	c.(589-591)agC>agT	p.S197S	CDHR2_ENST00000506348.1_Silent_p.S197S|CDHR2_ENST00000261944.5_Silent_p.S197S	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	197	Cadherin 2.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						ACAACAAGAGCGCTTTCTACC	0.637000													44	69					0	0	1	0	0
IRF4	3662	broad.mit.edu	37	6	397111	397111	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:397111G>C	ENST00000380956.4	+	5	622	c.496G>C	c.(496-498)Gtt>Ctt	p.V166L	IRF4_ENST00000495137.1_3'UTR	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	166					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		CCTTTAGCAGGTTCACAACTA	0.557000			T	IGH@	MM								61	127					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98554156	98554156	+	Splice_Site	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:98554156A>T	ENST00000359863.4	+	42	6419	c.6210_splice	c.e42+1	p.A2070_splice	TRRAP_ENST00000355540.3_Splice_Site_p.A2052_splice|TRRAP_ENST00000446306.3_Splice_Site_p.A2051_splice	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2070	Interaction with TP53.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCATCAGTGCAGTAAGATCAT	0.507000													16	106					0	0	1	0	0
SHPRH	257218	broad.mit.edu	37	6	146247397	146247397	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:146247397C>G	ENST00000367503.3	-	16	3662	c.3264G>C	c.(3262-3264)ttG>ttC	p.L1088F	SHPRH_ENST00000367505.2_Missense_Mutation_p.L1079F|SHPRH_ENST00000275233.7_Missense_Mutation_p.L1079F|SHPRH_ENST00000438092.2_Missense_Mutation_p.L1088F	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1079					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		GCCTGGCTATCAACAATTCCA	0.388000													9	27					0	0	1	0	0
IFNA5	3442	broad.mit.edu	37	9	21305229	21305229	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:21305229C>A	ENST00000259555.4	-	1	83	c.27G>T	c.(25-27)atG>atT	p.M9I		NM_002169.2	NP_002160.1	P01569	IFNA5_HUMAN	interferon, alpha 5	9					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CCACCAGGGCCATCAGTAAAA	0.517000													5	44					0.014758	0.0154892	1	1	0
ESPNP	284729	broad.mit.edu	37	1	17046636	17046636	+	RNA	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:17046636C>A	ENST00000492551.1	-	0	16					NR_026567.1																						GACTGTGGGACCAGAATTGTC	0.622000													20	160					2.4624e-09	3.64016e-09	1	1	0
HIVEP2	3097	broad.mit.edu	37	6	143095719	143095719	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:143095719C>G	ENST00000367603.2	-	5	899	c.157G>C	c.(157-159)Gag>Cag	p.E53Q	HIVEP2_ENST00000012134.2_Missense_Mutation_p.E53Q|HIVEP2_ENST00000367604.1_Missense_Mutation_p.E53Q	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	53					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CCGATTTGCTCAGGCTCTATT	0.478000													34	114					0	0	1	0	0
TRGV5	6978	broad.mit.edu	37	7	38389111	38389111	+	RNA	SNP	A	A	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:38389111A>G	ENST00000390344.2	-	0	396																											ACGTCATAGTACAGAAGACGC	0.463000													13	51					0	0	1	0	0
TERF1	7013	broad.mit.edu	37	8	73958248	73958248	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:73958248G>T	ENST00000276602.6	+	9	1159	c.1136G>T	c.(1135-1137)gGa>gTa	p.G379V	TERF1_ENST00000276603.5_Missense_Mutation_p.G399V	NM_003218.3	NP_003209.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	399	HTH myb-type.				age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			AGGAAATATGGAGAGGGAAAC	0.348000													12	14					6.31663e-08	8.74261e-08	1	1	0
PKD1L1	168507	broad.mit.edu	37	7	47854995	47854995	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:47854995C>A	ENST00000289672.2	-	47	7076	c.7026G>T	c.(7024-7026)ctG>ctT	p.L2342L	C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2342					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						GAAGTGTGGTCAGACTCCAGT	0.532000													73	33					7.07328e-35	1.43197e-34	1	1	0
TRIM42	287015	broad.mit.edu	37	3	140401870	140401870	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:140401870G>T	ENST00000286349.3	+	2	1099	c.908G>T	c.(907-909)cGc>cTc	p.R303L		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	303						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GAGTACTGCCGCAATGACAAC	0.567000													37	83					4.65686e-17	8.32199e-17	1	1	0
VPS16	64601	broad.mit.edu	37	20	2844844	2844844	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr20:2844844G>A	ENST00000380445.3	+	17	1703	c.1631G>A	c.(1630-1632)cGc>cAc	p.R544H	VPS16_ENST00000380443.3_Missense_Mutation_p.R230H|PTPRA_ENST00000380393.3_5'UTR|VPS16_ENST00000380469.3_Missense_Mutation_p.R400H|VPS16_ENST00000481812.2_3'UTR	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	544					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						TATGAGCCACGCTCAGGGGAG	0.582000													62	30					0	0	1	0	0
KIAA0196	9897	broad.mit.edu	37	8	126056934	126056934	+	Silent	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:126056934T>A	ENST00000318410.7	-	21	2860	c.2511A>T	c.(2509-2511)acA>acT	p.T837T	KIAA0196-AS1_ENST00000519140.1_RNA|KIAA0196_ENST00000517845.1_Silent_p.T689T	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	837					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CTATGTGACATGTCATTCTAA	0.433000													20	101					0	0	1	0	0
CCER1	196477	broad.mit.edu	37	12	91348175	91348175	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:91348175G>T	ENST00000358859.2	-	1	778	c.345C>A	c.(343-345)caC>caA	p.H115Q	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1																		AGCAGAGAGGGTGCAGGCCAT	0.672000													21	32					3.62473e-10	5.49883e-10	1	1	0
GPR149	344758	broad.mit.edu	37	3	154139074	154139074	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:154139074C>A	ENST00000389740.2	-	3	1476	c.1377G>T	c.(1375-1377)acG>acT	p.T459T		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	459						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CCAGAGAGGGCGTGGTGCTGA	0.408000													32	30					5.60225e-13	9.24132e-13	1	1	0
DNAH10	196385	broad.mit.edu	37	12	124359902	124359902	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:124359902C>A	ENST00000409039.3	+	46	7734	c.7709C>A	c.(7708-7710)gCa>gAa	p.A2570E		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2570	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTTATTGCTGCAATGGGAAAG	0.468000													4	22					1	1	1	1	0
ZBED2	79413	broad.mit.edu	37	3	111312668	111312668	+	Missense_Mutation	SNP	G	G	T	rs143138825	byFrequency	TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:111312668G>T	ENST00000317012.4	-	2	1389	c.381C>A	c.(379-381)caC>caA	p.H127Q	CD96_ENST00000283285.5_Intron|CD96_ENST00000352690.4_Intron|CD96_ENST00000438817.2_Intron	NM_024508.4	NP_078784.2	Q9BTP6	ZBED2_HUMAN	zinc finger, BED-type containing 2	127							DNA binding|metal ion binding			large_intestine(3)|lung(1)|skin(2)	6						GCTGGGGCCCGTGGGGCCTTG	0.622000													46	98					1.15505e-17	2.07693e-17	1	1	0
GCN1L1	10985	broad.mit.edu	37	12	120615556	120615556	+	Splice_Site	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:120615556C>G	ENST00000300648.6	-	8	673		c.e8-1			NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)						regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTAGGGCGCTCTAGAGAACAC	0.478000													36	62					0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110231795	110231795	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:110231795G>T	ENST00000418703.2	-	8	1618	c.1524C>A	c.(1522-1524)taC>taA	p.Y508*	TRPV4_ENST00000536838.1_Nonsense_Mutation_p.Y474*|TRPV4_ENST00000544971.1_Nonsense_Mutation_p.Y401*|TRPV4_ENST00000537083.1_Nonsense_Mutation_p.Y448*|TRPV4_ENST00000541794.1_Nonsense_Mutation_p.Y461*|TRPV4_ENST00000261740.2_Nonsense_Mutation_p.Y508*|TRPV4_ENST00000346520.2_Nonsense_Mutation_p.Y448*|TRPV4_ENST00000392719.2_Nonsense_Mutation_p.Y461*	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	508					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CCAGCCGCAGGTAGTCCACCG	0.647000													4	18					0.00024832	0.000283026	1	1	0
OR11A1	26531	broad.mit.edu	37	6	29394511	29394511	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:29394511C>G	ENST00000377149.1	-	5	1380	c.908G>C	c.(907-909)cGg>cCg	p.R303P	OR11A1_ENST00000377147.2_Missense_Mutation_p.R303P|OR11A1_ENST00000377148.1_Missense_Mutation_p.R303P|OR5V1_ENST00000377154.1_Intron			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						GAGAATCTTCCGAAGTGCCTG	0.473000													12	21					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21257705	21257705	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:21257705C>A	ENST00000233242.1	-	8	1014	c.887G>T	c.(886-888)aGc>aTc	p.S296I	APOB_ENST00000399256.4_Missense_Mutation_p.S296I	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	296	Heparin-binding.|Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AAAGAAGCGGCTGTTGATCTT	0.453000													11	20					1.58986e-06	2.0517e-06	1	1	0
DNAH9	1770	broad.mit.edu	37	17	11511621	11511621	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:11511621C>A	ENST00000262442.3	+	2	661	c.593C>A	c.(592-594)gCg>gAg	p.A198E	DNAH9_ENST00000579406.1_3'UTR|DNAH9_ENST00000579828.1_Missense_Mutation_p.A198E|DNAH9_ENST00000454412.2_Missense_Mutation_p.A198E	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	198	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	p.A198V(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)		ATGGAGTTTGCGGATTCCAAA	0.473000													60	44					2.12129e-23	4.08048e-23	1	1	0
DCHS1	8642	broad.mit.edu	37	11	6653770	6653770	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:6653770C>A	ENST00000299441.3	-	6	3384	c.2973G>T	c.(2971-2973)gtG>gtT	p.V991V	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	991	Cadherin 9.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACGGGTTCCCACATCCTGTA	0.662000													4	7					0.150653	0.153301	1	1	0
TTC27	55622	broad.mit.edu	37	2	33036261	33036261	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:33036261G>T	ENST00000317907.4	+	17	2400	c.2169G>T	c.(2167-2169)caG>caT	p.Q723H		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	723							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						GAAATGGGCAGAGTGAAAAGC	0.428000													3	12					0.004672	0.00499401	1	1	0
ACPL2	92370	broad.mit.edu	37	3	141011428	141011428	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:141011428A>G	ENST00000508812.1	+	5	2704	c.797A>G	c.(796-798)tAc>tGc	p.Y266C	ACPL2_ENST00000504264.1_Missense_Mutation_p.Y258C|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000393007.1_Missense_Mutation_p.Y259C|ACPL2_ENST00000393010.2_Missense_Mutation_p.Y275C|ACPL2_ENST00000502783.1_Missense_Mutation_p.Y237C|ACPL2_ENST00000286353.4_Missense_Mutation_p.Y275C			Q8TE99	ACPL2_HUMAN	acid phosphatase-like 2	275						extracellular region	acid phosphatase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						GAGAAGACCTACGGGGAGATG	0.527000													40	81					0	0	1	0	0
ATP11B	23200	broad.mit.edu	37	3	182545958	182545958	+	Missense_Mutation	SNP	A	A	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:182545958A>C	ENST00000323116.5	+	3	455	c.195A>C	c.(193-195)agA>agC	p.R65S	ATP11B_ENST00000493826.1_Missense_Mutation_p.R65S	NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	65					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			AGTTCAGAAGAGTGGCAAACT	0.239000													9	25					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42004800	42004800	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:42004800C>A	ENST00000395925.3	-	15	3955	c.3871G>T	c.(3871-3873)Ggc>Tgc	p.G1291C	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1291					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TTCAGCTGGCCCCCGCTCCCT	0.627000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				14	82					1.05317e-09	1.57703e-09	1	1	0
ITFG1	81533	broad.mit.edu	37	16	47294596	47294596	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr16:47294596C>A	ENST00000320640.6	-	11	1309	c.1081G>T	c.(1081-1083)Gcc>Tcc	p.A361S	ITFG1_ENST00000544001.2_Missense_Mutation_p.A248S|ITFG1_ENST00000568047.1_5'UTR	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	361						extracellular region|integral to membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				AGTAAAAAGGCCTGCTGGTTG	0.433000													17	17					2.23348e-06	2.84843e-06	1	1	0
CCDC78	124093	broad.mit.edu	37	16	775484	775484	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr16:775484G>A	ENST00000293889.6	-	4	469	c.364C>T	c.(364-366)Ccc>Tcc	p.P122S		NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	122										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				GCTGCCCGGGGATGCCTGGGG	0.612000													39	58					0	0	1	0	0
SPAG16	79582	broad.mit.edu	37	2	214727351	214727351	+	Splice_Site	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:214727351A>T	ENST00000331683.5	+	11	1308	c.1214_splice	c.e11+1	p.S405_splice	SPAG16_ENST00000374309.3_Splice_Site_p.S311_splice	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	405					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CTTCCATCCCAGGTCAGTGCA	0.498000													11	43					0	0	1	0	0
MED17	9440	broad.mit.edu	37	11	93530833	93530833	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:93530833G>T	ENST00000251871.3	+	8	1563	c.1276G>T	c.(1276-1278)Ggg>Tgg	p.G426W	MED17_ENST00000533367.1_3'UTR	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	426					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GTCCAGTGAAGGGCTTCTGGA	0.358000													9	6					0.00621372	0.00662974	1	1	0
ZCCHC12	170261	broad.mit.edu	37	X	117959424	117959424	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chrX:117959424C>T	ENST00000310164.2	+	4	724	c.217C>T	c.(217-219)Cca>Tca	p.P73S		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	73					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						tggcgtcctgccagattggaa	0.552000													45	63					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31294353	31294353	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:31294353G>T	ENST00000265071.2	+	3	778	c.513G>T	c.(511-513)atG>atT	p.M171I	CDH6_ENST00000514738.1_Missense_Mutation_p.M116I	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	171	Cadherin 2.				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						TCCCTGAAATGTCTGATGTCG	0.483000													27	94					3.28513e-13	5.45011e-13	1	1	0
FLG	2312	broad.mit.edu	37	1	152278837	152278837	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:152278837C>A	ENST00000368799.1	-	3	8560	c.8525G>T	c.(8524-8526)cGt>cTt	p.R2842L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2842	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCTCATTACGTGTTGTTCT	0.567000									Ichthyosis				206	1328					2.67636e-39	5.45637e-39	1	1	0
OR5AR1	219493	broad.mit.edu	37	11	56431454	56431454	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:56431454C>G	ENST00000302969.2	+	1	317	c.293C>G	c.(292-294)gCc>gGc	p.A98G		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TCCAGCTGTGCCACCCAGTTT	0.512000													33	164					0	0	1	0	0
PCDHGC4	56098	broad.mit.edu	37	5	140865805	140865805	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:140865805G>C	ENST00000306593.1	+	1	1065	c.1065G>C	c.(1063-1065)gaG>gaC	p.E355D	PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1														NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACCTCAGAGCTTGGAACCC	0.562000													25	67					0	0	1	0	0
SYNGR3	9143	broad.mit.edu	37	16	2042949	2042949	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr16:2042949C>A	ENST00000248121.2	+	4	724	c.566C>A	c.(565-567)gCg>gAg	p.A189E	SYNGR3_ENST00000562045.1_3'UTR	NM_004209.5	NP_004200.2	O43761	SNG3_HUMAN	synaptogyrin 3	189					positive regulation of transporter activity	cell junction|integral to plasma membrane|synaptic vesicle				endometrium(1)|lung(2)	3						AGCACCGGGGCGAGCCAGGCC	0.711000													5	22					1	1	1	1	0
MS4A6E	245802	broad.mit.edu	37	11	60102422	60102422	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:60102422C>A	ENST00000300182.4	+	1	119	c.54C>A	c.(52-54)gtC>gtA	p.V18V		NM_139249.2	NP_640342.1	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member 6E	18						integral to membrane	receptor activity			endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						CATCAAATGTCATCAACTTCT	0.418000													4	40					0.00198382	0.00215368	1	1	0
C17orf66	256957	broad.mit.edu	37	17	34182383	34182383	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:34182383A>G	ENST00000311880.2	-	15	1545	c.1397T>C	c.(1396-1398)aTt>aCt	p.I466T	C17orf66_ENST00000592980.1_Missense_Mutation_p.I426T	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN	chromosome 17 open reading frame 66	466							binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CCAGGGATCAATTGAGGCACA	0.483000													33	48					0	0	1	0	0
RAD54L2	23132	broad.mit.edu	37	3	51664306	51664306	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:51664306C>T	ENST00000409535.1	+	5	625	c.500C>T	c.(499-501)gCa>gTa	p.A167V	RAD54L2_ENST00000296477.3_Intron	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	167						nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GCTTTAAGGGCAAGTGACGGT	0.478000													6	42					0	0	1	0	0
VWA8	23078	broad.mit.edu	37	13	42277488	42277488	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr13:42277488C>A	ENST00000379310.3	-	27	3244	c.3176G>T	c.(3175-3177)gGg>gTg	p.G1059V		NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		TTTTTGCATCCCACTTCTTGC	0.353000													8	2					1.12685e-05	1.38035e-05	1	1	0
FDFT1	2222	broad.mit.edu	37	8	11687789	11687789	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:11687789G>C	ENST00000220584.4	+	6	961	c.739G>C	c.(739-741)Gct>Cct	p.A247P	FDFT1_ENST00000525900.1_Missense_Mutation_p.A240P|FDFT1_ENST00000528643.1_Missense_Mutation_p.A162P|FDFT1_ENST00000530664.1_Missense_Mutation_p.A183P|FDFT1_ENST00000525777.1_Missense_Mutation_p.A162P|FDFT1_ENST00000538689.1_Missense_Mutation_p.A136P|FDFT1_ENST00000528812.1_Missense_Mutation_p.A183P|FDFT1_ENST00000446331.2_3'UTR|FDFT1_ENST00000443614.2_Missense_Mutation_p.A204P	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	247					cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		AGGGGATTTTGCTAAGCCGGA	0.438000													11	20					0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108496470	108496470	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:108496470G>T	ENST00000408999.3	+	21	5048	c.4971G>T	c.(4969-4971)caG>caT	p.Q1657H	RGPD4_ENST00000354986.4_Missense_Mutation_p.Q1657H	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1657					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AATTGGTTCAGAAGCTCAGTT	0.413000													12	60					1.05317e-09	1.57703e-09	1	1	0
TTC12	54970	broad.mit.edu	37	11	113195392	113195392	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:113195392G>T	ENST00000393020.1	+	5	715	c.310G>T	c.(310-312)Gtc>Ttc	p.V104F	TTC12_ENST00000483239.2_Missense_Mutation_p.V104F|TTC12_ENST00000529221.1_Missense_Mutation_p.V104F|TTC12_ENST00000314756.3_Missense_Mutation_p.V104F			Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	104							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		GGAAAACAAAGTCTTGGCGGA	0.438000													5	4					0.014758	0.0154892	1	1	0
ABCA9	10350	broad.mit.edu	37	17	67016573	67016573	+	Silent	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:67016573A>T	ENST00000340001.4	-	19	2767	c.2556T>A	c.(2554-2556)gtT>gtA	p.V852V	ABCA9_ENST00000370732.2_Silent_p.V852V|ABCA9_ENST00000453985.2_Silent_p.V852V	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	852					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TTAGGAAGCGAACTTTTGCTA	0.398000													12	62					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123192605	123192605	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr4:123192605G>T	ENST00000264501.4	+	47	8299	c.7926G>T	c.(7924-7926)cgG>cgT	p.R2642R	KIAA1109_ENST00000455637.1_Silent_p.R2642R|KIAA1109_ENST00000388738.3_Silent_p.R2642R			Q2LD37	K1109_HUMAN	KIAA1109	2642					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AGAACAAACGGACCAACAATG	0.368000													5	16					0.184627	0.186887	1	1	0
TSSC4	10078	broad.mit.edu	37	11	2424074	2424074	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:2424074G>T	ENST00000333256.6	+	3	654	c.211G>T	c.(211-213)Ggc>Tgc	p.G71C	TSSC4_ENST00000380996.5_Splice_Site|TSSC4_ENST00000380992.1_Splice_Site|TSSC4_ENST00000451491.2_Missense_Mutation_p.G71C			Q9Y5U2	TSSC4_HUMAN	tumor suppressing subtransferable candidate 4	71										endometrium(3)|large_intestine(1)|lung(4)	8		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACCCCCGTCAGGCCTCCTCCC	0.657000													6	10					3.59834e-05	4.2987e-05	1	1	0
NPHS1	4868	broad.mit.edu	37	19	36333429	36333429	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:36333429G>C	ENST00000378910.5	-	18	2357	c.2358C>G	c.(2356-2358)agC>agG	p.S786R	NPHS1_ENST00000353632.6_Missense_Mutation_p.S786R	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	786	Ig-like C2-type 7.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGTCATCCAGGCTCTGGTCCT	0.577000													34	49					0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22804680	22804680	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr18:22804680C>A	ENST00000361524.3	-	4	3350	c.3202G>T	c.(3202-3204)Gca>Tca	p.A1068S	ZNF521_ENST00000538137.2_Missense_Mutation_p.A1068S|ZNF521_ENST00000584787.1_Missense_Mutation_p.A848S	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1068					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)					AGGCAAGATGCGCACTTATAC	0.498000			T	PAX5	ALL								15	49					0.000219431	0.000252586	1	1	0
SLC22A9	114571	broad.mit.edu	37	11	63137567	63137567	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:63137567G>T	ENST00000279178.3	+	1	288	c.39G>T	c.(37-39)ctG>ctT	p.L13L	SLC22A9_ENST00000310969.4_Silent_p.L13L	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	13					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CTGGTGACCTGTGGAGATTCC	0.458000													27	65					4.72057e-08	6.60196e-08	1	1	0
LDHB	3945	broad.mit.edu	37	12	21788493	21788493	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:21788493C>A	ENST00000396076.1	-	8	1320	c.988G>T	c.(988-990)Gac>Tac	p.D330Y	LDHB_ENST00000350669.1_Missense_Mutation_p.D330Y	NM_001174097.1	NP_001167568.1	P07195	LDHB_HUMAN	lactate dehydrogenase B	330					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26					NADH(DB00157)	TCTTTTAGGTCCTTCTGGATG	0.433000													9	55					7.48243e-07	9.81645e-07	1	1	0
KIF6	221458	broad.mit.edu	37	6	39607385	39607385	+	Splice_Site	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:39607385C>T	ENST00000287152.7	-	4	494		c.e4+1		KIF6_ENST00000538893.1_Splice_Site|KIF6_ENST00000373215.3_Splice_Site|KIF6_ENST00000373216.3_Splice_Site	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6						microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						AAGTTTCATACCTTTTGTAAC	0.348000													5	28					0	0	1	0	0
NRG2	9542	broad.mit.edu	37	5	139260445	139260445	+	Silent	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:139260445G>A	ENST00000541337.1	-	3	1216	c.987C>T	c.(985-987)aaC>aaT	p.N329N	NRG2_ENST00000289422.7_Silent_p.N329N|NRG2_ENST00000289409.4_Silent_p.N329N|NRG2_ENST00000361474.1_Silent_p.N329N|NRG2_ENST00000394770.1_Silent_p.N329N|NRG2_ENST00000358522.3_Silent_p.N329N|NRG2_ENST00000340391.3_Silent_p.N126N|NRG2_ENST00000545385.1_Silent_p.N329N|NRG2_ENST00000518130.1_5'UTR	NM_001184935.1	NP_001171864.1	O14511	NRG2_HUMAN	neuregulin 2	395	Ig-like C2-type.				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTACCGCTGTTGACGTAAA	0.637000													32	80					0	0	1	0	0
UGT2A3	79799	broad.mit.edu	37	4	69817194	69817194	+	Silent	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr4:69817194C>T	ENST00000251566.4	-	1	315	c.285G>A	c.(283-285)ctG>ctA	p.L95L		NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	95						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCAAGACATTCAGAGCTAGGT	0.353000													18	10					0	0	1	0	0
OR8J3	81168	broad.mit.edu	37	11	55905110	55905110	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:55905110G>T	ENST00000301529.1	-	1	84	c.85C>A	c.(85-87)Ctg>Atg	p.L29M		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					AGGAAGACCAGGAAGAGGGGA	0.488000													16	60					0.000308642	0.000348577	1	1	0
OR13A1	79290	broad.mit.edu	37	10	45798954	45798954	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:45798954A>G	ENST00000553795.1	-	4	1225	c.917T>C	c.(916-918)cTc>cCc	p.L306P	OR13A1_ENST00000374401.2_Missense_Mutation_p.L306P|OR13A1_ENST00000536058.1_Missense_Mutation_p.L306P	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						AGTATAGATGAGGGGGTTGAG	0.493000													34	57					0	0	1	0	0
GATM	2628	broad.mit.edu	37	15	45661524	45661524	+	Splice_Site	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr15:45661524C>A	ENST00000396659.3	-	3	823	c.484_splice	c.e3+1	p.G162_splice	GATM_ENST00000558336.1_Splice_Site_p.G162_splice	NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	162					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	CATCACTTACCCGTAGACTCA	0.378000													4	17					1	1	1	1	0
AKNAD1	254268	broad.mit.edu	37	1	109366271	109366271	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:109366271G>T	ENST00000370001.3	-	12	2244	c.1976C>A	c.(1975-1977)aCt>aAt	p.T659N	AKNAD1_ENST00000369994.1_Missense_Mutation_p.T629N|AKNAD1_ENST00000369995.3_Missense_Mutation_p.T659N|AKNAD1_ENST00000357393.4_Missense_Mutation_p.T366N	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	659										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						CTGCATTTCAGTGCCAGAATC	0.438000													18	29					4.75885e-15	8.17618e-15	1	1	0
LRRC3B	116135	broad.mit.edu	37	3	26751757	26751757	+	Silent	SNP	T	T	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:26751757T>C	ENST00000396641.2	+	2	1186	c.594T>C	c.(592-594)ccT>ccC	p.P198P	LRRC3B_ENST00000417744.1_Silent_p.P198P|LRRC3B_ENST00000456208.2_Silent_p.P198P	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	198						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						GTAACCTCCCTAAAAAAACTA	0.463000													4	3					0	0	1	0	0
TRIM24	8805	broad.mit.edu	37	7	138223465	138223465	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:138223465A>G	ENST00000343526.4	+	7	1275	c.1060A>G	c.(1060-1062)Aaa>Gaa	p.K354E	TRIM24_ENST00000415680.2_Missense_Mutation_p.K354E|TRIM24_ENST00000497516.1_3'UTR			O15164	TIF1A_HUMAN	tripartite motif containing 24	354					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						TGGACTCTCTAAACAATTGGA	0.393000													8	25					0	0	1	0	0
SUPT16H	11198	broad.mit.edu	37	14	21825479	21825479	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr14:21825479T>A	ENST00000216297.2	-	22	2875	c.2537A>T	c.(2536-2538)gAg>gTg	p.E846V		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	846					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CTGGACCCGCTCAAAGTGGAT	0.438000													9	10					0	0	1	0	0
IFT172	26160	broad.mit.edu	37	2	27707895	27707895	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:27707895C>A	ENST00000260570.3	-	3	389	c.286G>T	c.(286-288)Gga>Tga	p.G96*	IFT172_ENST00000359466.6_Nonsense_Mutation_p.G96*|IFT172_ENST00000416524.2_Nonsense_Mutation_p.G75*	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	96					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CAATCTTCTCCAATCTTGTAG	0.483000													22	29					4.35082e-09	6.38831e-09	1	1	0
PLEKHH1	57475	broad.mit.edu	37	14	68048818	68048818	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr14:68048818C>T	ENST00000329153.5	+	24	3449	c.3317C>T	c.(3316-3318)aCg>aTg	p.T1106M	PLEKHH1_ENST00000417684.2_5'UTR	NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	1106	FERM.					cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		AAAGGGGAGACGGACCGAGAA	0.517000													6	13					0	0	1	0	0
OR2AK2	391191	broad.mit.edu	37	1	248128906	248128906	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:248128906C>A	ENST00000366480.3	+	1	372	c.273C>A	c.(271-273)acC>acA	p.T91T	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	91					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)			ACATCTCCACCACAGTGCCCA	0.483000													14	98					9.31168e-06	1.1512e-05	1	1	0
RIPK1	8737	broad.mit.edu	37	6	3113471	3113471	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:3113471G>T	ENST00000259808.4	+	11	2212	c.1914G>T	c.(1912-1914)agG>agT	p.R638S	RIPK1_ENST00000541791.1_Missense_Mutation_p.R592S|RIPK1_ENST00000380409.2_Missense_Mutation_p.R638S			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	638	Death.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				GGGTGATGAGGGAAGGCATAA	0.512000													13	38					5.50884e-06	6.85448e-06	1	1	0
SEMA6A	57556	broad.mit.edu	37	5	115782462	115782462	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:115782462G>T	ENST00000343348.6	-	19	3727	c.2940C>A	c.(2938-2940)gcC>gcA	p.A980A	SEMA6A_ENST00000282394.6_Silent_p.A457A|SEMA6A_ENST00000510263.1_Silent_p.A980A|SEMA6A_ENST00000257414.8_Silent_p.A997A|SEMA6A_ENST00000503865.1_Silent_p.A359A|SEMA6A_ENST00000513137.1_Silent_p.A407A	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	980					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		AGACAGTCACGGCCTGGCCAG	0.647000													6	21					0.0215528	0.0224443	1	1	0
FAM43B	163933	broad.mit.edu	37	1	20879738	20879738	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:20879738C>T	ENST00000332947.4	+	1	807	c.272C>T	c.(271-273)aCc>aTc	p.T91I		NM_207334.2	NP_997217.1	Q6ZT52	FA43B_HUMAN	family with sequence similarity 43, member B	91										large_intestine(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00979)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.000399)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)		GACGGCTGCACCGACGACGCC	0.687000													4	21					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48389949	48389949	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:48389949T>A	ENST00000224600.4	-	1	1042	c.929A>T	c.(928-930)gAg>gTg	p.E310V		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	310	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CAGGGCCTGCTCGGCCGGAGT	0.677000													29	49					0	0	1	0	0
CHST2	9435	broad.mit.edu	37	3	142840128	142840128	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:142840128C>A	ENST00000309575.3	+	2	1854	c.470C>A	c.(469-471)aCc>aAc	p.T157N		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	157					inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						ACTCGGGGCACCGGGGGCGTC	0.701000													9	37					4.68919e-08	6.56865e-08	1	1	0
COPA	1314	broad.mit.edu	37	1	160293299	160293299	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:160293299A>T	ENST00000241704.7	-	8	857	c.628T>A	c.(628-630)Tgg>Agg	p.W210R	COPA_ENST00000368069.3_Missense_Mutation_p.W210R	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	210					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AAGGCAGCCCAGTTTACTCCA	0.443000													7	15					0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20576044	20576044	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr16:20576044C>A	ENST00000329697.6	-	2	292	c.124G>T	c.(124-126)Gcc>Tcc	p.A42S	ACSM2B_ENST00000567001.1_Missense_Mutation_p.A42S|ACSM2B_ENST00000565322.1_Intron|ACSM2B_ENST00000414188.2_Missense_Mutation_p.A42S|ACSM2B_ENST00000565232.1_Missense_Mutation_p.A42S	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	42					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TTAAACTTGGCCGGCACTTCC	0.507000													15	17					3.27435e-08	4.62779e-08	1	1	0
HTR3C	170572	broad.mit.edu	37	3	183772553	183772553	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:183772553C>T	ENST00000318351.1	+	2	146	c.112C>T	c.(112-114)Cat>Tat	p.H38Y		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	38						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CTTTGACCAGCATGGGGTTGA	0.522000													15	104					0	0	1	0	0
OR51V1	283111	broad.mit.edu	37	11	5221782	5221782	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:5221782C>A	ENST00000321255.1	-	1	148	c.149G>T	c.(148-150)gGc>gTc	p.G50V		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATGCAATTGCCCAAAAGCAC	0.507000													15	35					2.62699e-14	4.45613e-14	1	1	0
HIST1H4D	8360	broad.mit.edu	37	6	26189001	26189001	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:26189001C>A	ENST00000340756.2	-	1	303	c.304G>T	c.(304-306)Ggc>Tgc	p.G102C		NM_003539.3	NP_003530.1	P62805	H4_HUMAN	histone cluster 1, H4d	102					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)	8		all_hematologic(11;0.196)				GCTCAGCCGCCGAAGCCATAA	0.547000													23	81					8.04996e-18	1.45351e-17	1	1	0
HECTD4	283450	broad.mit.edu	37	12	112623130	112623130	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:112623130C>A	ENST00000550722.1	-	61	9597	c.9202G>T	c.(9202-9204)Gcc>Tcc	p.A3068S	HECTD4_ENST00000430131.2_Missense_Mutation_p.A2792S|HECTD4_ENST00000377560.5_Missense_Mutation_p.A3042S	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		GACTGCAAGGCCATCAGCATG	0.706000													12	15					3.07112e-06	3.87684e-06	1	1	0
ABCC2	1244	broad.mit.edu	37	10	101603570	101603570	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:101603570G>T	ENST00000370449.4	+	27	3869	c.3756G>T	c.(3754-3756)ctG>ctT	p.L1252L		NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1252	ABC transmembrane type-1 2.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CACAAACCCTGAACTGGCTGG	0.438000													18	106					1.02788e-11	1.63352e-11	1	1	0
NEBL	10529	broad.mit.edu	37	10	21186113	21186113	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:21186113C>A	ENST00000377122.4	-	1	418	c.22G>T	c.(22-24)Gat>Tat	p.D8Y	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377119.1_Missense_Mutation_p.D8Y|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	8					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						tcttttATATCCTCAAATACA	0.373000													5	4					1.23904e-05	1.51032e-05	1	1	0
MAPK1	5594	broad.mit.edu	37	22	22162018	22162018	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr22:22162018T>A	ENST00000215832.6	-	2	425	c.237A>T	c.(235-237)agA>agT	p.R79S	MAPK1_ENST00000398822.3_Missense_Mutation_p.R79S|MAPK1_ENST00000544786.1_Missense_Mutation_p.R79S	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	79	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)	TGTTCTCATGTCTGAAGCGCA	0.433000													22	24					0	0	1	0	0
LRMP	4033	broad.mit.edu	37	12	25260847	25260847	+	Missense_Mutation	SNP	T	T	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:25260847T>G	ENST00000354454.3	+	21	2182	c.1353T>G	c.(1351-1353)ttT>ttG	p.F451L	LRMP_ENST00000548766.1_Missense_Mutation_p.F451L|LRMP_ENST00000547044.1_Missense_Mutation_p.F451L	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	507					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					TTGTACTGTTTGCAGCTTTGA	0.458000													10	71					0	0	1	0	0
NR1I2	8856	broad.mit.edu	37	3	119531558	119531558	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:119531558G>A	ENST00000393716.2	+	5	2384	c.545G>A	c.(544-546)tGc>tAc	p.C182Y	NR1I2_ENST00000466380.1_Intron|NR1I2_ENST00000337940.4_Missense_Mutation_p.C221Y	NM_003889.3	NP_003880.3	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	182	Hinge.				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	AGCAGTGGCTGCGAGTTGCCA	0.582000													69	165					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117749384	117749384	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:117749384T>A	ENST00000317775.6	-	3	1424	c.739A>T	c.(739-741)Aag>Tag	p.K247*	NOS1_ENST00000344089.3_Nonsense_Mutation_p.K247*|NOS1_ENST00000338101.4_Nonsense_Mutation_p.K247*	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	247					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TTGTGTGACTTGCCGTCCAAA	0.552000													7	27					0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167000160	167000160	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:167000160C>G	ENST00000392766.2	-	19	2343	c.2003G>C	c.(2002-2004)aGa>aCa	p.R668T	ZBBX_ENST00000307529.5_Missense_Mutation_p.R707T|ZBBX_ENST00000392767.2_Missense_Mutation_p.R668T|ZBBX_ENST00000455345.2_Missense_Mutation_p.R707T|ZBBX_ENST00000392764.1_Missense_Mutation_p.R639T	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	668	Ser-rich.					intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						AGAAGCAGCTCTAGATGATGA	0.373000													5	35					0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108487824	108487824	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:108487824C>A	ENST00000408999.3	+	20	3441	c.3364C>A	c.(3364-3366)Ccc>Acc	p.P1122T	RGPD4_ENST00000354986.4_Missense_Mutation_p.P1122T	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1122	RanBD1 1.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GAACCTGAAGCCCCTGTCTGG	0.433000													17	109					1.02788e-11	1.63352e-11	1	1	0
HIST1H3I	8354	broad.mit.edu	37	6	27839854	27839854	+	Silent	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:27839854C>T	ENST00000328488.2	-	1	245	c.240G>A	c.(238-240)aaG>aaA	p.K80K		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	80					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	p.K80N(1)		endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCAGATCGGTCTTAAAGTCCT	0.602000													37	180					0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	280294	280294	+	Silent	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:280294G>C	ENST00000538872.1	+	13	3199	c.3081G>C	c.(3079-3081)gcG>gcC	p.A1027A	RP11-598F7.6_ENST00000537295.1_lincRNA|IQSEC3_ENST00000537151.1_3'UTR|IQSEC3_ENST00000382841.2_Silent_p.A724A|IQSEC3_ENST00000326261.4_Silent_p.A1027A			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	1027					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GGGAAGCCGCGCTCAGGGAGA	0.622000													20	78					0	0	1	0	0
OR10J1	26476	broad.mit.edu	37	1	159410095	159410095	+	Missense_Mutation	SNP	A	A	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:159410095A>C	ENST00000423932.3	+	1	584	c.547A>C	c.(547-549)Aag>Cag	p.K183Q	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	183					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					CTGTGCTAGAAAGGTGCCCCA	0.498000													26	109					0	0	1	0	0
IGKV2-30	28919	broad.mit.edu	37	2	89544352	89544352	+	RNA	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:89544352C>A	ENST00000468494.1	-	0	301																											AGTGCCTGACCCACTGCCGCT	0.517000													24	130					7.38237e-10	1.11312e-09	1	1	0
C2orf54	79919	broad.mit.edu	37	2	241835041	241835041	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:241835041G>T	ENST00000388934.4	-	1	532	c.374C>A	c.(373-375)aCc>aAc	p.T125N		NM_001085437.1	NP_001078906.1	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	125										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		GGTATCCTCGGTGGTCCACCG	0.617000													12	44					0.000151284	0.000176482	1	1	0
OR8J3	81168	broad.mit.edu	37	11	55904798	55904798	+	Missense_Mutation	SNP	T	T	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:55904798T>G	ENST00000301529.1	-	1	396	c.397A>C	c.(397-399)Atg>Ctg	p.M133L		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					ACCACCACCATGTAGAGCAGA	0.498000													18	98					0	0	1	0	0
ROBO4	54538	broad.mit.edu	37	11	124763799	124763799	+	Silent	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:124763799C>G	ENST00000306534.3	-	9	1946	c.1461G>C	c.(1459-1461)gtG>gtC	p.V487V	ROBO4_ENST00000533054.1_Silent_p.V342V	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	487					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GGTGGATACACACGGCGGTGC	0.642000													9	25					0	0	1	0	0
MCCC1	56922	broad.mit.edu	37	3	182759539	182759539	+	Splice_Site	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:182759539C>A	ENST00000492597.1	-	10	1459		c.e10-1		MCCC1_ENST00000539926.1_Splice_Site|MCCC1_ENST00000265594.4_Splice_Site			Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)						biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	CTGCTGCAATCTGGCAATAGA	0.388000													17	44					6.94344e-10	1.04785e-09	1	1	0
TRPV5	56302	broad.mit.edu	37	7	142625230	142625230	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:142625230C>A	ENST00000265310.1	-	7	1210	c.862G>T	c.(862-864)Gag>Tag	p.E288*	TRPV5_ENST00000442623.1_Nonsense_Mutation_p.E288*	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	288					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GACAGCTCCTCTCCCCAGGAG	0.537000													23	100					1.10513e-12	1.80925e-12	1	1	0
ZNF530	348327	broad.mit.edu	37	19	58117237	58117237	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:58117237G>T	ENST00000332854.6	+	3	564	c.344G>T	c.(343-345)gGa>gTa	p.G115V	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCACCCTGTGGACAGAAATTG	0.448000													16	30					2.31682e-05	2.79855e-05	1	1	0
GRIK4	2900	broad.mit.edu	37	11	120732786	120732786	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:120732786C>A	ENST00000527524.2	+	9	1150	c.863C>A	c.(862-864)tCc>tAc	p.S288Y	GRIK4_ENST00000438375.2_Missense_Mutation_p.S288Y			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	288					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	CTCAACCAGTCCTGGCAGGAG	0.547000													77	113					7.14181e-18	1.29088e-17	1	1	0
SCN11A	11280	broad.mit.edu	37	3	38991801	38991801	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:38991801G>T	ENST00000302328.3	-	1	251	c.53C>A	c.(52-54)cCc>cAc	p.P18H	SCN11A_ENST00000444237.2_Missense_Mutation_p.P18H|SCN11A_ENST00000450244.1_Missense_Mutation_p.P18H|SCN11A_ENST00000456224.3_Missense_Mutation_p.P18H	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	18					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)	GGAAGTGAAGGGGCGGAAATT	0.507000													17	32					1.5739e-10	2.43659e-10	1	1	0
RIMBP2	23504	broad.mit.edu	37	12	130897280	130897280	+	Missense_Mutation	SNP	C	C	T	rs145452600		TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:130897280C>T	ENST00000261655.4	-	15	2868	c.2705G>A	c.(2704-2706)cGg>cAg	p.R902Q		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	902	SH3 2.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		AAGGCCAAGCCGGGCACAGGT	0.453000													6	34					0	0	1	0	0
ARID3B	10620	broad.mit.edu	37	15	74836554	74836554	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr15:74836554G>C	ENST00000346246.5	+	2	508	c.277G>C	c.(277-279)Gaa>Caa	p.E93Q		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	93					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						AGAGCCTGAGGAAGAGGACGG	0.522000													9	42					0	0	1	0	0
MMP16	4325	broad.mit.edu	37	8	89053923	89053923	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:89053923C>A	ENST00000286614.6	-	10	1871	c.1590G>T	c.(1588-1590)atG>atT	p.M530I		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	530	Hemopexin-like 4.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						CATCACAGCCCATAAAATCCT	0.428000													9	36					0.000274275	0.000310774	1	1	0
GZMB	3002	broad.mit.edu	37	14	25101305	25101305	+	Nonsense_Mutation	SNP	C	C	A	rs144452134	byFrequency	TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr14:25101305C>A	ENST00000526004.1	-	3	258	c.223G>T	c.(223-225)Gga>Tga	p.G75*	RP11-104E19.1_ENST00000557736.1_RNA|GZMB_ENST00000382540.1_Missense_Mutation_p.R75L|GZMB_ENST00000382542.1_Missense_Mutation_p.R154L|RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000415355.3_Missense_Mutation_p.R108L|GZMB_ENST00000216341.4_Missense_Mutation_p.R120L			P10144	GRAB_HUMAN	granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)	205	Peptidase S1.				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity	p.R154L(1)|p.R120L(1)		endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		AGCTCTGGTCCGCTTGGCCTT	0.632000													21	70					1.96292e-10	3.01467e-10	1	1	0
PIKFYVE	200576	broad.mit.edu	37	2	209203255	209203255	+	Silent	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:209203255A>T	ENST00000264380.4	+	29	4793	c.4635A>T	c.(4633-4635)ccA>ccT	p.P1545P		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1545					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						ATGCATCTCCACGGAATATTT	0.338000													3	11					0	0	1	0	0
KCNA5	3741	broad.mit.edu	37	12	5154185	5154185	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:5154185C>T	ENST00000252321.3	+	1	1101	c.872C>T	c.(871-873)cCt>cTt	p.P291L		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	291						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						CCCCACCAGCCTCCCGCGCCC	0.692000													85	87					0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71495328	71495328	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:71495328C>G	ENST00000296755.7	+	5	6444	c.6146C>G	c.(6145-6147)aCt>aGt	p.T2049S		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2049						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GAGAAAATCACTAGAACCCCT	0.458000													20	56					0	0	1	0	0
ANXA6	309	broad.mit.edu	37	5	150507762	150507762	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:150507762C>A	ENST00000354546.5	-	13	1184	c.957G>T	c.(955-957)aaG>aaT	p.K319N	ANXA6_ENST00000523714.1_Missense_Mutation_p.K287N|ANXA6_ENST00000356496.5_Missense_Mutation_p.K319N|ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000521512.1_Missense_Mutation_p.K112N	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	319						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCCAGACAGCTTCAGCAGAG	0.577000													11	6					4.68919e-08	6.56865e-08	1	1	0
NEBL	10529	broad.mit.edu	37	10	21108432	21108432	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:21108432T>C	ENST00000377122.4	-	20	2372	c.1976A>G	c.(1975-1977)gAg>gGg	p.E659G	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	659					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GTAGTTTTGCTCTTTATACTG	0.443000													41	60					0	0	1	0	0
EXOSC10	5394	broad.mit.edu	37	1	11151196	11151196	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:11151196C>A	ENST00000544779.1	-	5	523	c.518G>T	c.(517-519)cGg>cTg	p.R173L	EXOSC10_ENST00000304457.7_Missense_Mutation_p.R173L|EXOSC10_ENST00000376936.4_Missense_Mutation_p.R173L			Q01780	EXOSX_HUMAN	exosome component 10	173					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		ATGAAGCAGCCGGAAAGTTTC	0.353000													6	32					0.00116845	0.00128212	1	1	0
CYP3A5	1577	broad.mit.edu	37	7	99258178	99258178	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:99258178G>T	ENST00000343703.5	-	11	1326	c.940C>A	c.(940-942)Cac>Aac	p.H314N	CYP3A5_ENST00000222982.4_Missense_Mutation_p.H324N|CYP3A5_ENST00000339843.2_3'UTR					cytochrome P450, family 3, subfamily A, polypeptide 5											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)					ACATCAGGGTGAGTGGCCAGT	0.478000													10	32					1.76689e-08	2.526e-08	1	1	0
DRAXIN	374946	broad.mit.edu	37	1	11769488	11769488	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:11769488C>A	ENST00000294485.5	+	3	743	c.608C>A	c.(607-609)tCc>tAc	p.S203Y		NM_198545.3	NP_940947.3			dorsal inhibitory axon guidance protein																		ACAGAAGAGTCCCTGATCCTG	0.617000													18	17					7.07596e-05	8.3555e-05	1	1	0
ACAP1	9744	broad.mit.edu	37	17	7250478	7250478	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:7250478C>G	ENST00000158762.3	+	14	1466	c.1260C>G	c.(1258-1260)tgC>tgG	p.C420W		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	420	Arf-GAP.|Required for interaction with GULP1.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						ATGCCCAGTGCTGCGACTGCC	0.657000													18	58					0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75967799	75967799	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:75967799G>A	ENST00000274364.6	+	24	3356	c.3059G>A	c.(3058-3060)gGa>gAa	p.G1020E	IQGAP2_ENST00000396234.3_Missense_Mutation_p.G516E|IQGAP2_ENST00000379730.3_Missense_Mutation_p.G522E|IQGAP2_ENST00000502745.1_Missense_Mutation_p.G516E	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1020	Ras-GAP.				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)		ACACAGACTGGAGAGGCCAGG	0.398000													5	18					0	0	1	0	0
ARHGEF4	50649	broad.mit.edu	37	2	131798969	131798969	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:131798969T>A	ENST00000392953.3	+	9	1790	c.1271T>A	c.(1270-1272)gTg>gAg	p.V424E	ARHGEF4_ENST00000326016.5_Missense_Mutation_p.V424E|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000355771.3_Missense_Mutation_p.V353E|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.V424E|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.V364E	NM_032995.1	NP_127462.1	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	424	DH.				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)		CTGACTCCGGTGCAGAAGATC	0.602000													20	67					0	0	1	0	0
KIAA0930	23313	broad.mit.edu	37	22	45601101	45601101	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr22:45601101C>A	ENST00000336156.4	-	5	578	c.513G>T	c.(511-513)gaG>gaT	p.E171D	KIAA0930_ENST00000391627.2_Missense_Mutation_p.E137D|KIAA0930_ENST00000443310.3_Missense_Mutation_p.E153D|KIAA0930_ENST00000251993.7_Missense_Mutation_p.E176D	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	171							protein binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						AGCTCACCTCCTCGAAGCTGT	0.567000													13	38					0.00010058	0.000117569	1	1	0
MYO1E	4643	broad.mit.edu	37	15	59502771	59502771	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr15:59502771C>G	ENST00000288235.4	-	13	1703	c.1304G>C	c.(1303-1305)tGg>tCg	p.W435S		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	435	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		AATGGGTGTCCATCTTATTCC	0.393000													3	11					0	0	1	0	0
RCVRN	5957	broad.mit.edu	37	17	9801522	9801522	+	Splice_Site	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:9801522C>A	ENST00000226193.5	-	3	934		c.e3-1		RCVRN_ENST00000570909.2_Splice_Site	NM_002903.2	NP_002894.1	P35243	RECO_HUMAN	recoverin						visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						GTAAGTTTATCTGTGCATTGG	0.413000													43	58					8.69298e-16	1.51451e-15	1	1	0
DNMT1	1786	broad.mit.edu	37	19	10265615	10265615	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:10265615T>A	ENST00000340748.4	-	19	1797	c.1562A>T	c.(1561-1563)gAc>gTc	p.D521V	DNMT1_ENST00000359526.4_Missense_Mutation_p.D537V|DNMT1_ENST00000540357.1_Missense_Mutation_p.D521V			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	521	DNA replication foci-targeting sequence (By similarity).|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	ATAGGTCGAGTCGGAATTGCT	0.522000													15	45					0	0	1	0	0
ACPT	93650	broad.mit.edu	37	19	51295010	51295010	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:51295010C>A	ENST00000270593.1	+	4	401	c.401C>A	c.(400-402)gCc>gAc	p.A134D	ACPT_ENST00000270594.3_Intron	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	134						integral to membrane	acid phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		AGCCCCGAGGCCCGCTGGAGG	0.687000													18	61					1.99824e-07	2.70955e-07	1	1	0
GAD2	2572	broad.mit.edu	37	10	26506829	26506829	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:26506829G>T	ENST00000376261.3	+	3	698	c.195G>T	c.(193-195)cgG>cgT	p.R65R	GAD2_ENST00000259271.3_Silent_p.R65R	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	65					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	AAcccccgcgggccgccgccc	0.672000													10	17					4.68919e-08	6.56865e-08	1	1	0
DNMT3A	1788	broad.mit.edu	37	2	25505412	25505412	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:25505412C>A	ENST00000264709.3	-	4	683	c.346G>T	c.(346-348)Gca>Tca	p.A116S	DNMT3A_ENST00000406659.3_Missense_Mutation_p.A116S|DNMT3A_ENST00000321117.5_Missense_Mutation_p.A116S	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	116					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTCCCTCTGCTGGGGCCCCG	0.662000			"""Mis, F, N, S"""		AML								28	41					1.75199e-13	2.91215e-13	1	1	0
TENM4	26011	broad.mit.edu	37	11	78381366	78381366	+	Silent	SNP	G	G	T	rs143254595	by1000genomes	TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:78381366G>T	ENST00000278550.7	-	32	6486	c.6024C>A	c.(6022-6024)cgC>cgA	p.R2008R		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		ATATCACCCTGCGGCCAGTGC	0.532000													6	60					0.00116845	0.00128212	1	1	0
PGLYRP2	114770	broad.mit.edu	37	19	15587314	15587314	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:15587314G>T	ENST00000292609.4	-	2	296	c.167C>A	c.(166-168)tCa>tAa	p.S56*	PGLYRP2_ENST00000340880.4_Nonsense_Mutation_p.S56*			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	56					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GTTTGGAGCTGACATCAGCCA	0.597000													8	42					0.000157383	0.000181765	1	1	0
MED23	9439	broad.mit.edu	37	6	131917226	131917226	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:131917226C>A	ENST00000403834.3	-	22	3047	c.2874G>T	c.(2872-2874)ctG>ctT	p.L958L	MED23_ENST00000368058.1_Silent_p.L958L|MED23_ENST00000354577.4_Silent_p.L958L|MED23_ENST00000479213.1_5'UTR|MED23_ENST00000368060.3_Silent_p.L952L|MED23_ENST00000368068.3_Silent_p.L952L|MED23_ENST00000545957.1_Silent_p.L593L			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	952					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		AATAGATGGGCAGATAGGGAG	0.423000													5	36					0.0215528	0.0224443	1	1	0
C16orf62	57020	broad.mit.edu	37	16	19621667	19621667	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr16:19621667G>T	ENST00000438132.3	+	12	1268	c.1220G>T	c.(1219-1221)cGg>cTg	p.R407L	C16orf62_ENST00000538853.1_3'UTR|C16orf62_ENST00000542263.1_Missense_Mutation_p.R407L|C16orf62_ENST00000543152.1_Missense_Mutation_p.R67L|C16orf62_ENST00000251143.5_Missense_Mutation_p.R318L|C16orf62_ENST00000417362.2_Missense_Mutation_p.R318L|C16orf62_ENST00000448695.1_Missense_Mutation_p.R168L	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	318						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TGCCTGCCCCGGTTGACATGC	0.502000													13	28					0.00136819	0.00149657	1	1	0
SPTA1	6708	broad.mit.edu	37	1	158651405	158651405	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:158651405A>T	ENST00000368148.3	-	4	623	c.443T>A	c.(442-444)cTg>cAg	p.L148Q	SPTA1_ENST00000368147.3_Missense_Mutation_p.L148Q	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	148					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ACCCTTCTCCAGGGTCAGCTC	0.537000													35	128					0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124821372	124821372	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:124821372C>A	ENST00000356219.3	-	39	6218	c.6063G>T	c.(6061-6063)tcG>tcT	p.S2021S	NCOR2_ENST00000429285.2_Silent_p.S2004S|NCOR2_ENST00000404621.1_Silent_p.S2004S|NCOR2_ENST00000397355.1_Silent_p.S2005S|NCOR2_ENST00000404121.2_Silent_p.S1575S|NCOR2_ENST00000405201.1_Silent_p.S2014S	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2025					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGTCCGAGGCCGAGGCAGGTG	0.647000													37	57					3.62531e-18	6.60079e-18	1	1	0
SLC10A1	6554	broad.mit.edu	37	14	70252970	70252970	+	Silent	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr14:70252970G>C	ENST00000216540.4	-	2	544	c.411C>G	c.(409-411)ctC>ctG	p.L137L		NM_003049.3	NP_003040.1	Q14973	NTCP_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 1	137					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)	14				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)		AGATGTACAGGAGGAGAGGCA	0.527000													32	24					0	0	1	0	0
PTPRA	5786	broad.mit.edu	37	20	2998538	2998538	+	Silent	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr20:2998538C>T	ENST00000216877.6	+	12	1393	c.993C>T	c.(991-993)acC>acT	p.T331T	PTPRA_ENST00000399903.2_Silent_p.T340T|PTPRA_ENST00000356147.3_Silent_p.T331T|PTPRA_ENST00000358719.4_Silent_p.T196T|PTPRA_ENST00000380393.3_Silent_p.T340T|PTPRA_ENST00000425918.2_Silent_p.T351T|PTPRA_ENST00000318266.5_Silent_p.T331T	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	340	Tyrosine-protein phosphatase 1.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TCATGGTTACCAACCTGAAGG	0.443000													5	12					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71054178	71054178	+	Missense_Mutation	SNP	T	T	C	rs117718337		TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr16:71054178T>C	ENST00000393567.2	-	22	3379	c.3229A>G	c.(3229-3231)Ata>Gta	p.I1077V	HYDIN_ENST00000448089.2_Missense_Mutation_p.I1029V	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1077			I -> V (in dbSNP:rs6416709).					p.I1077V(3)|p.I1029V(3)		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)				ATGTTCTTTATGGCCAAGGGC	0.418000													3	20					0	0	1	0	0
RBM10	8241	broad.mit.edu	37	X	47038783	47038783	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chrX:47038783G>T	ENST00000377604.3	+	9	1532	c.790G>T	c.(790-792)Gag>Tag	p.E264*	RBM10_ENST00000345781.6_Nonsense_Mutation_p.E187*|RBM10_ENST00000329236.7_Nonsense_Mutation_p.E187*|RBM10_ENST00000468791.1_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	264					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						GGGTGGCCGGGAGCTGAGCCA	0.667000													12	9					0.00010058	0.000117569	1	1	0
GDF3	9573	broad.mit.edu	37	12	7842868	7842868	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:7842868A>T	ENST00000329913.3	-	2	748	c.701T>A	c.(700-702)cTg>cAg	p.L234Q		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	234					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						AGTCACCACCAGCAGGGAAGC	0.522000													13	91					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31769222	31769222	+	Missense_Mutation	SNP	C	C	T	rs150498804	byFrequency	TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:31769222C>T	ENST00000240587.4	-	2	1804	c.1477G>A	c.(1477-1479)Gaa>Aaa	p.E493K		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	493	Poly-Glu.				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TCCTCTTCTTCGCCAGGCTTG	0.463000													45	188					0	0	1	0	0
ERG	2078	broad.mit.edu	37	21	39755656	39755656	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr21:39755656C>A	ENST00000442448.1	-	11	1329	c.1058G>T	c.(1057-1059)cGt>cTt	p.R353L	ERG_ENST00000398897.1_Missense_Mutation_p.R254L|ERG_ENST00000398907.1_Missense_Mutation_p.R347L|ERG_ENST00000453032.2_Missense_Mutation_p.R278L|ERG_ENST00000398910.1_Missense_Mutation_p.R354L|ERG_ENST00000398919.2_Missense_Mutation_p.R377L|ERG_ENST00000398911.1_Missense_Mutation_p.R353L|ERG_ENST00000288319.7_Missense_Mutation_p.R370L|ERG_ENST00000398905.1_Missense_Mutation_p.R346L|ERG_ENST00000417133.2_Missense_Mutation_p.R377L	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	377					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.R353L(1)	EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				ATAGTAGTAACGGAGGGCGCG	0.602000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""								67	54					2.89171e-43	5.92324e-43	1	1	0
ASTN1	460	broad.mit.edu	37	1	176857216	176857216	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:176857216G>A	ENST00000367654.2	-	18	3102	c.3089C>T	c.(3088-3090)cCa>cTa	p.P1030L	ASTN1_ENST00000361833.2_Missense_Mutation_p.P1022L|ASTN1_ENST00000424564.2_Missense_Mutation_p.P1022L|ASTN1_ENST00000367657.3_Missense_Mutation_p.P1022L			O14525	ASTN1_HUMAN	astrotactin 1	1030	Fibronectin type-III 1.				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						CACAGGCTGTGGGAGAGGCGC	0.502000													22	63					0	0	1	0	0
OR12D2	26529	broad.mit.edu	37	6	29364987	29364987	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:29364987C>A	ENST00000383555.2	+	1	572	c.511C>A	c.(511-513)Cgt>Agt	p.R171S	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R171S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						TGGTTCCAACCGTATCCATCA	0.478000													16	103					1.99824e-07	2.70955e-07	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141528565	141528565	+	Silent	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:141528565G>A	ENST00000389484.3	-	34	6482	c.5511C>T	c.(5509-5511)tcC>tcT	p.S1837S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1837	EGF-like 4.				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)		TTAGTTGGCAGGAATTGCTGC	0.303000										TSP Lung(27;0.18)			3	24					0	0	1	0	0
MSI2	124540	broad.mit.edu	37	17	55339531	55339531	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:55339531T>A	ENST00000284073.2	+	5	499	c.290T>A	c.(289-291)tTt>tAt	p.F97Y	MSI2_ENST00000322684.3_Missense_Mutation_p.F93Y|MSI2_ENST00000416426.2_Missense_Mutation_p.F75Y	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	97	RRM 1.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		AAAGTTGCATTTCCTCGTCGA	0.348000			T	HOXA9	CML								6	33					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1558657	1558657	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:1558657C>A	ENST00000572621.1	-	36	6239	c.5974G>T	c.(5974-5976)Ggc>Tgc	p.G1992C	PRPF8_ENST00000304992.6_Missense_Mutation_p.G1992C			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1992	Involved in interaction with pre-mRNA 5' splice site.					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TTTTTCTTGCCGTAGTCAGCC	0.483000													21	15					7.41877e-09	1.07746e-08	1	1	0
ORM1	5004	broad.mit.edu	37	9	117087109	117087109	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:117087109G>C	ENST00000259396.8	+	4	446	c.368G>C	c.(367-369)aGg>aCg	p.R123T	ORM1_ENST00000477456.1_3'UTR	NM_000607.2	NP_000598.2	P02763	A1AG1_HUMAN	orosomucoid 1	123					acute-phase response|regulation of immune system process|transport	extracellular space	protein binding			endometrium(2)|large_intestine(4)|lung(2)	8		Myeloproliferative disorder(63;0.163)			Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706)	CTGATCCTCAGGGACACCAAG	0.522000													11	44					0	0	1	0	0
LOC349160	349160	broad.mit.edu	37	7	136848964	136848964	+	RNA	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:136848964A>T	ENST00000439694.1	-	0	164				AC009264.1_ENST00000599888.1_RNA|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000592183.1_RNA																							GAGTCGCACCAACCGACCACC	0.512000													23	35					0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74317095	74317095	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:74317095G>T	ENST00000409262.3	+	5	2555	c.2555G>T	c.(2554-2556)aGc>aTc	p.S852I		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	852							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGTTCCTGGAGCATGTACTTC	0.582000													86	122					5.72486e-32	1.14961e-31	1	1	0
TMEM132B	114795	broad.mit.edu	37	12	125834517	125834517	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:125834517C>A	ENST00000299308.3	+	2	580	c.572C>A	c.(571-573)cCc>cAc	p.P191H	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	191						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)		GAGCTGCTGCCCGAGTGGTTC	0.632000													46	70					1.76056e-25	3.44767e-25	1	1	0
CHDC2	286464	broad.mit.edu	37	X	36162680	36162680	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chrX:36162680G>T	ENST00000378660.1	+	11	1451	c.1263G>T	c.(1261-1263)gtG>gtT	p.V421V	CHDC2_ENST00000313548.4_Silent_p.V421V					calponin homology domain containing 2																		gtttctaggtgtgtctgaggg	0.423000													17	6					0.000566183	0.000635721	1	1	0
NOS1	4842	broad.mit.edu	37	12	117701735	117701735	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:117701735G>T	ENST00000317775.6	-	13	2866	c.2181C>A	c.(2179-2181)acC>acA	p.T727T	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Silent_p.T727T	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	727					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GCTTTGTGGGGGTCCCGTTGG	0.577000													43	93					6.68952e-21	1.26164e-20	1	1	0
ASB10	136371	broad.mit.edu	37	7	150878098	150878098	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:150878098C>A	ENST00000422024.1	-	3	1292	c.1167G>T	c.(1165-1167)caG>caT	p.Q389H	ASB10_ENST00000420175.2_Missense_Mutation_p.Q344H|ASB10_ENST00000275838.1_Missense_Mutation_p.Q344H|ASB10_ENST00000434669.1_Missense_Mutation_p.Q389H|ASB10_ENST00000377867.3_Missense_Mutation_p.Q329H	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	344					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCTCGGGGCTCTGGGCCAGGG	0.687000													10	27					4.68919e-08	6.56865e-08	1	1	0
TRAC	28755	broad.mit.edu	37	14	23021059	23021059	+	RNA	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr14:23021059C>A	ENST00000478163.3	+	0	936																											GTTGTATGTCCTGCTGCCGAT	0.453000													14	14					0.00185496	0.00202391	1	1	0
SLITRK2	84631	broad.mit.edu	37	X	144904647	144904647	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chrX:144904647C>A	ENST00000370490.1	+	1	4959	c.704C>A	c.(703-705)aCt>aAt	p.T235N	SLITRK2_ENST00000434188.2_Missense_Mutation_p.T235N|SLITRK2_ENST00000413937.2_Missense_Mutation_p.T235N|SLITRK2_ENST00000447897.2_Missense_Mutation_p.T235N|SLITRK2_ENST00000428560.2_Missense_Mutation_p.T235N			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	235	LRRCT 1.					integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GACACCATAACTGTTTTTGTG	0.483000													20	62					2.94398e-08	4.17445e-08	1	1	0
GUCA1B	2979	broad.mit.edu	37	6	42162528	42162528	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:42162528C>A	ENST00000230361.3	-	1	126	c.31G>T	c.(31-33)Gag>Tag	p.E11*		NM_002098.5	NP_002089.4	Q9UMX6	GUC1B_HUMAN	guanylate cyclase activator 1B (retina)	11	EF-hand 1.				body fluid secretion|cell-cell signaling|receptor guanylyl cyclase signaling pathway|visual perception	plasma membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity			large_intestine(3)|lung(3)|skin(2)	8	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00154)|STAD - Stomach adenocarcinoma(11;0.00177)			CCAGCTGCCTCCGCCTCCTCC	0.572000													12	18					1.08611e-07	1.48315e-07	1	1	0
DYRK2	8445	broad.mit.edu	37	12	68043620	68043620	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:68043620G>T	ENST00000344096.3	+	2	506	c.93G>T	c.(91-93)ccG>ccT	p.P31P	DYRK2_ENST00000537632.1_3'UTR|DYRK2_ENST00000393555.3_Intron	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	31					apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		AGGCTTCCCCGGGGCTCGGTG	0.726000													7	12					5.18039e-06	6.50169e-06	1	1	0
FUT5	2527	broad.mit.edu	37	19	5867136	5867136	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:5867136C>A	ENST00000252675.5	-	5	1163	c.601G>T	c.(601-603)Gcc>Tcc	p.A201S	FUT5_ENST00000588525.1_Missense_Mutation_p.A201S			Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	201					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						TCGGTCTTGGCCGAGAGGTTG	0.662000													18	52					2.39187e-15	4.13401e-15	1	1	0
C16orf89	146556	broad.mit.edu	37	16	5106094	5106094	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr16:5106094G>C	ENST00000315997.5	-	5	924	c.723C>G	c.(721-723)atC>atG	p.I241M	C16orf89_ENST00000474471.3_Missense_Mutation_p.I241M|C16orf89_ENST00000472572.3_Missense_Mutation_p.I241M|C16orf89_ENST00000350219.4_Missense_Mutation_p.I279M|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000422873.1_Missense_Mutation_p.I279M	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	241						extracellular region				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						AGGCGTATCCGATGGCCTCAG	0.582000													18	49					0	0	1	0	0
KLHL31	401265	broad.mit.edu	37	6	53519729	53519729	+	Silent	SNP	A	A	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:53519729A>G	ENST00000370905.3	-	2	482	c.342T>C	c.(340-342)aaT>aaC	p.N114N	KLHL31_ENST00000407079.1_Silent_p.N114N	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN	kelch-like family member 31	114	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					GTGAGATATCATTGAGATCCA	0.423000													9	42					0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69692184	69692184	+	Silent	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr4:69692184G>C	ENST00000265403.7	+	4	1083	c.1056G>C	c.(1054-1056)ctG>ctC	p.L352L	UGT2B10_ENST00000458688.2_Silent_p.L268L	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	352					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						ATACTCGACTGTACAAGTGGA	0.388000													6	9					0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51208307	51208307	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr14:51208307C>A	ENST00000245441.5	-	25	5631	c.5441G>T	c.(5440-5442)gGt>gTt	p.G1814V	NIN_ENST00000324330.9_Missense_Mutation_p.G1814V|NIN_ENST00000530997.2_Missense_Mutation_p.G1814V|NIN_ENST00000453196.1_Missense_Mutation_p.G1814V|NIN_ENST00000389868.3_Missense_Mutation_p.G1101V|NIN_ENST00000382041.3_Missense_Mutation_p.G1814V|NIN_ENST00000382043.4_Missense_Mutation_p.G1101V	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1814					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CACCTTGCCACCAGCATTCTG	0.343000			T	PDGFRB	MPD								6	39					0.00116845	0.00128212	1	1	0
ZNF521	25925	broad.mit.edu	37	18	22669429	22669429	+	Splice_Site	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr18:22669429C>A	ENST00000361524.3	-	7	4054	c.3906_splice	c.e7+1	p.Q1302_splice	ZNF521_ENST00000538137.2_Splice_Site_p.Q1302_splice|ZNF521_ENST00000584787.1_Splice_Site_p.Q1082_splice	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1302					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)					AGGACATTACCTGCAGCTCTG	0.433000			T	PAX5	ALL								4	13					0.00909568	0.00962192	1	1	0
ZNF782	158431	broad.mit.edu	37	9	99580861	99580861	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:99580861C>A	ENST00000481138.1	-	6	2105	c.1444G>T	c.(1444-1446)Gaa>Taa	p.E482*	ZNF782_ENST00000535338.1_Nonsense_Mutation_p.E350*	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	482					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				TTCCCGCATTCATTACATTCA	0.403000													15	79					7.93312e-07	1.03608e-06	1	1	0
WBP11P1	441818	broad.mit.edu	37	18	30092818	30092818	+	RNA	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr18:30092818C>A	ENST00000567636.1	+	0	1193					NR_003558.1																						TCAAGAAATCCCTGAGGAGGG	0.418000													6	15					2.0095e-06	2.57411e-06	1	1	0
AJAP1	55966	broad.mit.edu	37	1	4772033	4772033	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:4772033G>C	ENST00000378191.4	+	2	484	c.103G>C	c.(103-105)Gcc>Ccc	p.A35P	AJAP1_ENST00000466761.1_3'UTR|AJAP1_ENST00000378190.3_Missense_Mutation_p.A35P	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	35					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		GTTTCAGCTCGCCGTGGACCT	0.701000													51	207					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119626013	119626013	+	Splice_Site	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:119626013C>A	ENST00000313400.4	-	11	1990		c.e11-1		ASTN2_ENST00000373996.3_Splice_Site|ASTN2_ENST00000361477.3_Splice_Site|ASTN2_ENST00000361209.2_Splice_Site			O75129	ASTN2_HUMAN	astrotactin 2							integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGCTTCTTCCCTTGGAGAGAA	0.423000													5	33					0.000602214	0.000671403	1	1	0
NRROS	375387	broad.mit.edu	37	3	196387012	196387012	+	Silent	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:196387012G>A	ENST00000328557.4	+	3	701	c.498G>A	c.(496-498)ggG>ggA	p.G166G		NM_198565.1	NP_940967.1			negative regulator of reactive oxygen species																		CCCTGGCGGGGAACACCATCA	0.647000													28	29					0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7623912	7623912	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:7623912C>T	ENST00000221249.6	+	31	3891	c.3460C>T	c.(3460-3462)Cgc>Tgc	p.R1154C	PNPLA6_ENST00000600737.1_Missense_Mutation_p.R1192C|PNPLA6_ENST00000414982.3_Missense_Mutation_p.R1202C|PNPLA6_ENST00000450331.3_Missense_Mutation_p.R1154C|PNPLA6_ENST00000545201.2_Missense_Mutation_p.R1127C	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1193					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						AATCCAGTCCCGCCTGGCCTA	0.607000													15	65					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103230244	103230244	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:103230244C>A	ENST00000428762.1	-	28	4103	c.3944G>T	c.(3943-3945)aGt>aTt	p.S1315I	RELN_ENST00000343529.5_Missense_Mutation_p.S1315I|RELN_ENST00000424685.2_Missense_Mutation_p.S1315I	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1315					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TGGAGCAGTACTGCTGAATTG	0.418000													5	23					1.23904e-05	1.51032e-05	1	1	0
OR4E2	26686	broad.mit.edu	37	14	22133580	22133580	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr14:22133580A>T	ENST00000408935.1	+	1	284	c.284A>T	c.(283-285)gAc>gTc	p.D95V		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		ATTTCCTTTGACAACTGCATC	0.448000													25	123					0	0	1	0	0
HNRNPA1L2	144983	broad.mit.edu	37	13	53217179	53217179	+	Silent	SNP	A	A	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr13:53217179A>G	ENST00000342657.3	+	7	1625	c.552A>G	c.(550-552)caA>caG	p.Q184Q	HNRNPA1L2_ENST00000398039.1_Silent_p.Q184Q|HNRNPA1L2_ENST00000357495.2_Silent_p.Q184Q	NM_001011724.1	NP_001011724.1	Q32P51	RA1L2_HUMAN	heterogeneous nuclear ribonucleoprotein A1-like 2	184	Globular B domain.|RRM 2.				mRNA processing|mRNA transport|RNA splicing	cytoplasm|spliceosomal complex	nucleotide binding|RNA binding			cervix(1)|large_intestine(1)|lung(5)	7						TGCCAAAGCAAGAGATGGCTA	0.478000													13	37					0	0	1	0	0
MORN1	79906	broad.mit.edu	37	1	2290142	2290142	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:2290142C>A	ENST00000378531.3	-	9	931	c.758G>T	c.(757-759)cGg>cTg	p.R253L	MORN1_ENST00000378529.3_Missense_Mutation_p.R253L|MORN1_ENST00000606372.1_5'UTR	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	253								p.R253L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-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;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		CTGCAGGACCCGGCCGCTCTC	0.612000													11	25					9.70103e-10	1.45893e-09	1	1	0
KIF2C	11004	broad.mit.edu	37	1	45226352	45226352	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:45226352G>C	ENST00000372217.1	+	15	1850	c.1499G>C	c.(1498-1500)gGg>gCg	p.G500A	KIF2C_ENST00000372222.3_Missense_Mutation_p.G441A|RP11-269F19.2_ENST00000428791.1_RNA|RP11-269F19.2_ENST00000440985.1_RNA|KIF2C_ENST00000372218.4_Missense_Mutation_p.G513A|KIF2C_ENST00000372224.4_Missense_Mutation_p.G554A			Q99661	KIF2C_HUMAN	kinesin family member 2C	554	Kinesin-motor.				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					TCCTTCATTGGGGAGAACTCT	0.557000													16	23					0	0	1	0	0
HARS	3035	broad.mit.edu	37	5	140056609	140056609	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:140056609A>T	ENST00000504366.1	-	8	2528	c.709T>A	c.(709-711)Ttt>Att	p.F237I	HARS_ENST00000415192.2_Missense_Mutation_p.F232I|HARS_ENST00000431330.2_Missense_Mutation_p.F192I|HARS_ENST00000457527.2_Missense_Mutation_p.F286I|HARS_ENST00000504156.1_Missense_Mutation_p.F306I|HARS_ENST00000438307.2_Missense_Mutation_p.F266I|HARS_ENST00000448240.1_Missense_Mutation_p.F111I|HARS_ENST00000307633.3_Missense_Mutation_p.F246I			P12081	SYHC_HUMAN	histidyl-tRNA synthetase	306					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	AGGTACTCAAAGAGCAACTTC	0.537000													37	142					0	0	1	0	0
ZNF333	84449	broad.mit.edu	37	19	14829435	14829435	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:14829435G>T	ENST00000292530.6	+	12	1387	c.1296G>T	c.(1294-1296)acG>acT	p.T432T	ZNF333_ENST00000536363.1_Silent_p.T323T|ZNF333_ENST00000540689.2_Intron	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	432					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						AAACCTTCACGAGGAACTTTA	0.478000													26	25					1.55469e-16	2.76125e-16	1	1	0
OR2F1	26211	broad.mit.edu	37	7	143657159	143657159	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:143657159G>T	ENST00000392899.1	+	1	133	c.96G>T	c.(94-96)ttG>ttT	p.L32F		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TCCTGTTCTTGGTCATGTATG	0.498000													71	122					5.00936e-31	1.00245e-30	1	1	0
FBXW7	55294	broad.mit.edu	37	4	153332826	153332826	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr4:153332826G>A	ENST00000281708.4	-	2	1359	c.130C>T	c.(130-132)Caa>Taa	p.Q44*	FBXW7_ENST00000603841.1_Nonsense_Mutation_p.Q44*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.Q44*|FBXW7_ENST00000604872.1_Nonsense_Mutation_p.Q44*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	44					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding			NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGTCTGAGTTGCTGTTGCTGT	0.493000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								16	60					0	0	1	0	0
FAM194A	131831	broad.mit.edu	37	3	150377829	150377829	+	Silent	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:150377829C>G	ENST00000295910.6	-	14	1894	c.1842G>C	c.(1840-1842)gtG>gtC	p.V614V	FAM194A_ENST00000491361.1_Silent_p.V468V	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	614										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						AGGGAAAATTCACACATCCTT	0.408000													19	37					0	0	1	0	0
TMEM120A	83862	broad.mit.edu	37	7	75621770	75621770	+	RNA	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:75621770G>A	ENST00000338761.4	-	0	275				TMEM120A_ENST00000493111.2_RNA			Q9BXJ8	T120A_HUMAN	transmembrane protein 120A							integral to membrane											TTCAGGGCGAGGGCCAGCTCC	0.642000													4	14					0	0	1	0	0
OR4B1	119765	broad.mit.edu	37	11	48239261	48239261	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:48239261G>T	ENST00000309562.2	+	1	918	c.900G>T	c.(898-900)tgG>tgT	p.W300C		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GAAGATTGTGGAGCAAAAAGG	0.418000													8	16					0.000157383	0.000181765	1	1	0
GHR	2690	broad.mit.edu	37	5	42719077	42719077	+	Missense_Mutation	SNP	G	G	T	rs6176	byFrequency	TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:42719077G>T	ENST00000230882.4	+	10	1658	c.1468G>T	c.(1468-1470)Gtg>Ttg	p.V490L	GHR_ENST00000537449.1_Missense_Mutation_p.V303L|GHR_ENST00000357703.3_Missense_Mutation_p.V468L	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	490					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TTATGCCCAGGTGAGCGACAT	0.498000													24	62					1.10513e-12	1.80925e-12	1	1	0
CR1L	1379	broad.mit.edu	37	1	207890990	207890990	+	Silent	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:207890990G>C	ENST00000508064.2	+	11	1656	c.1596G>C	c.(1594-1596)ggG>ggC	p.G532G		NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	532	Sushi 8.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ATGGGAATGGGGTTTGGAGCA	0.527000													27	194					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10465782	10465782	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:10465782C>A	ENST00000382483.3	-	4	6049	c.5826G>T	c.(5824-5826)gaG>gaT	p.E1942D		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1942					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCTCTTCTGCCTCTTGGGCCT	0.602000													75	112					9.12251e-31	1.82345e-30	1	1	0
HMX2	3167	broad.mit.edu	37	10	124909258	124909258	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:124909258G>T	ENST00000339992.3	+	2	698	c.441G>T	c.(439-441)gcG>gcT	p.A147A		NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN	H6 family homeobox 2	147					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|lung(4)|prostate(1)	7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		AGGCCGGCGCGGCCAAGAAGA	0.687000													13	5					0.00010058	0.000117569	1	1	0
KIF21B	23046	broad.mit.edu	37	1	200959286	200959286	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:200959286C>A	ENST00000332129.2	-	20	3326	c.3010G>T	c.(3010-3012)Gtg>Ttg	p.V1004L	KIF21B_ENST00000422435.2_Missense_Mutation_p.V1004L|KIF21B_ENST00000360529.5_Missense_Mutation_p.V1004L|KIF21B_ENST00000461742.2_Missense_Mutation_p.V1004L	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1004					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.V1004M(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TCCAGCTGCACGATGGTGGCC	0.647000													38	112					1.59361e-14	2.71382e-14	1	1	0
MRC2	9902	broad.mit.edu	37	17	60767528	60767528	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:60767528C>T	ENST00000303375.5	+	26	4156	c.3754C>T	c.(3754-3756)Ccc>Tcc	p.P1252S	MRC2_ENST00000446119.2_Missense_Mutation_p.P118S	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1252					endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GCCCCCTCCTCCCCGAAGAAT	0.642000													29	51					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54312898	54312898	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:54312898G>A	ENST00000324134.6	-	3	2183	c.2015C>T	c.(2014-2016)gCg>gTg	p.A672V	NLRP12_ENST00000351894.4_Missense_Mutation_p.A672V|NLRP12_ENST00000391772.1_Missense_Mutation_p.A672V|NLRP12_ENST00000391773.1_Missense_Mutation_p.A672V|NLRP12_ENST00000345770.5_Missense_Mutation_p.A672V|NLRP12_ENST00000391775.3_Missense_Mutation_p.A672V|NLRP12_ENST00000535162.1_Missense_Mutation_p.A672V|NLRP12_ENST00000354278.3_Missense_Mutation_p.A672V	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	672					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TTCCCCGTCCGCGCTGTAGGT	0.622000													16	44					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3673732	3673732	+	Silent	SNP	G	G	T	rs144602570	byFrequency	TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr20:3673732G>T	ENST00000344754.4	-	14	3554	c.3555C>A	c.(3553-3555)ggC>ggA	p.G1185G	SIGLEC1_ENST00000202578.4_Silent_p.G1185G	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1185	Ig-like C2-type 12.				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						CCAGCTGCCCGCCATGGCTCT	0.701000													16	16					3.45872e-05	4.1634e-05	1	1	0
SCN8A	6334	broad.mit.edu	37	12	52156455	52156455	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:52156455C>A	ENST00000354534.5	+	15	2717	c.2539C>A	c.(2539-2541)Cga>Aga	p.R847R	SCN8A_ENST00000545061.1_Silent_p.R847R|SCN8A_ENST00000550891.1_Silent_p.R847R	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	847					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	GCGATCTTTCCGATTGGTATT	0.363000													8	23					0.00307968	0.00331849	1	1	0
ZNRF3	84133	broad.mit.edu	37	22	29446375	29446375	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr22:29446375G>T	ENST00000544604.2	+	8	2381	c.2206G>T	c.(2206-2208)Ggg>Tgg	p.G736W	ZNRF3_ENST00000332811.4_Missense_Mutation_p.G636W|ZNRF3_ENST00000406323.3_Missense_Mutation_p.G636W|ZNRF3_ENST00000402174.1_Missense_Mutation_p.G636W	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	736						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CTTGTTCCTGGGGCCCCACCT	0.716000													8	21					5.18039e-06	6.50169e-06	1	1	0
FAM135B	51059	broad.mit.edu	37	8	139164587	139164587	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:139164587G>C	ENST00000395297.1	-	13	2301	c.2131C>G	c.(2131-2133)Cgg>Ggg	p.R711G		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	711										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AAGACTTCCCGATCACTGGGC	0.547000										HNSCC(54;0.14)			14	128					0	0	1	0	0
FSTL4	23105	broad.mit.edu	37	5	132552968	132552968	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:132552968G>T	ENST00000265342.7	-	13	1810	c.1561C>A	c.(1561-1563)Ctg>Atg	p.L521M	CTB-49A3.2_ENST00000509051.1_RNA|CTB-49A3.2_ENST00000502776.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	521						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACTCTGCTCAGTGCTGGCTGG	0.507000													20	25					8.81451e-21	1.66061e-20	1	1	0
AHSA1	10598	broad.mit.edu	37	14	77935583	77935583	+	Silent	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr14:77935583C>G	ENST00000216479.3	+	9	1168	c.1008C>G	c.(1006-1008)cgC>cgG	p.R336R	AHSA1_ENST00000555457.1_3'UTR	NM_012111.2	NP_036243.1	O95433	AHSA1_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)	336					protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding			endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		ATGGCGCACGCTTATTTTAGG	0.592000													29	143					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130419900	130419900	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chrX:130419900T>C	ENST00000370904.1	-	10	1103	c.193A>G	c.(193-195)Aag>Gag	p.K65E	IGSF1_ENST00000370903.3_Missense_Mutation_p.K74E|IGSF1_ENST00000370901.4_Missense_Mutation_p.K74E|IGSF1_ENST00000370910.1_Missense_Mutation_p.K65E|IGSF1_ENST00000361420.3_Missense_Mutation_p.K74E|IGSF1_ENST00000370900.1_Missense_Mutation_p.K74E			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	74	Ig-like C2-type 1.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			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						ATCTGTGTCTTATCCTTCAGC	0.532000													75	37					0	0	1	0	0
MRPL13	28998	broad.mit.edu	37	8	121444298	121444298	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:121444298C>G	ENST00000306185.3	-	3	508	c.217G>C	c.(217-219)Gaa>Caa	p.E73Q		NM_014078.5	NP_054797.2	Q9BYD1	RM13_HUMAN	mitochondrial ribosomal protein L13	73					translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	6	Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			ACTTTTTGTTCCCATTTGTTT	0.313000													14	33					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129148296	129148296	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chrX:129148296C>A	ENST00000540052.1	+	3	1592	c.1548C>A	c.(1546-1548)tcC>tcA	p.S516S	BCORL1_ENST00000359304.2_Silent_p.S516S|BCORL1_ENST00000218147.7_Silent_p.S516S|BCORL1_ENST00000303743.5_Silent_p.S516S	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	516	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CTTCGGATTCCAAGCTGGTAT	0.627000													75	165					1.23106e-19	2.27726e-19	1	1	0
ARID2	196528	broad.mit.edu	37	12	46211529	46211529	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:46211529G>T	ENST00000334344.6	+	5	667	c.495G>T	c.(493-495)ctG>ctT	p.L165L	ARID2_ENST00000422737.1_Silent_p.L16L	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	165					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TGCTTTCACTGTTATCTGGAC	0.353000			"""N, S, F"""		hepatocellular carcinoma								3	23					0.115264	0.117981	1	1	0
SYTL3	94120	broad.mit.edu	37	6	159103992	159103992	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:159103992A>T	ENST00000297239.9	+	5	559	c.365A>T	c.(364-366)gAg>gTg	p.E122V	SYTL3_ENST00000360448.3_Missense_Mutation_p.E122V|SYTL3_ENST00000367081.3_Missense_Mutation_p.R2W			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	122	RabBD.				intracellular protein transport	endomembrane system|membrane	Rab GTPase binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		TGGTTCTATGAGGAACGAGCC	0.323000													3	4					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11418900	11418900	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:11418900G>T	ENST00000423059.3	-	26	4849	c.4598C>A	c.(4597-4599)aCa>aAa	p.T1533K	AC004538.3_ENST00000428967.1_RNA|AC004538.3_ENST00000595972.1_RNA|AC004538.3_ENST00000445839.1_RNA|AC004538.3_ENST00000421121.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1533						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ACAATGGCATGTTTTTGTCTG	0.438000										HNSCC(18;0.044)			7	40					1.12685e-05	1.38035e-05	1	1	0
TLR5	7100	broad.mit.edu	37	1	223285029	223285029	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:223285029G>T	ENST00000540964.1	-	4	1806	c.1345C>A	c.(1345-1347)Cat>Aat	p.H449N	TLR5_ENST00000342210.6_Missense_Mutation_p.H449N			O60602	TLR5_HUMAN	toll-like receptor 5	449			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		ATCTGGAGATGAGGTACCCGT	0.418000													8	24					0.00307968	0.00331849	1	1	0
RBBP6	5930	broad.mit.edu	37	16	24583299	24583299	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr16:24583299G>T	ENST00000319715.4	+	18	5344	c.4912G>T	c.(4912-4914)Gaa>Taa	p.E1638*	RBBP6_ENST00000348022.2_Nonsense_Mutation_p.E1604*|RBBP6_ENST00000381039.3_Nonsense_Mutation_p.E798*	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1638					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AGCTGCTTTTGAACCAGACTA	0.373000													23	37					7.41877e-09	1.07746e-08	1	1	0
UNC79	57578	broad.mit.edu	37	14	94044188	94044188	+	Splice_Site	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr14:94044188G>T	ENST00000553484.1	+	18	2366	c.2211_splice	c.e18-1	p.V738_splice	UNC79_ENST00000393151.2_Splice_Site_p.V738_splice|UNC79_ENST00000256339.4_Splice_Site_p.V561_splice|UNC79_ENST00000555664.1_Splice_Site_p.V738_splice			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	738						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TTTCTTGTAGGTGAGTGTTGC	0.453000													29	45					3.73988e-18	6.80228e-18	1	1	0
PTPRA	5786	broad.mit.edu	37	20	3001989	3001989	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr20:3001989G>T	ENST00000216877.6	+	13	1449	c.1049G>T	c.(1048-1050)tGc>tTc	p.C350F	PTPRA_ENST00000399903.2_Missense_Mutation_p.C359F|PTPRA_ENST00000356147.3_Missense_Mutation_p.C350F|PTPRA_ENST00000358719.4_Missense_Mutation_p.C215F|PTPRA_ENST00000380393.3_Missense_Mutation_p.C359F|PTPRA_ENST00000425918.2_Missense_Mutation_p.C370F|PTPRA_ENST00000318266.5_Missense_Mutation_p.C350F	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	359	Tyrosine-protein phosphatase 1.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GACCAAGGCTGCTGGACCTAT	0.532000													10	47					0.0692343	0.0713286	1	1	0
MYOM2	9172	broad.mit.edu	37	8	2092695	2092695	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:2092695G>T	ENST00000262113.4	+	37	4329	c.4188G>T	c.(4186-4188)gaG>gaT	p.E1396D	MYOM2_ENST00000520298.1_3'UTR|MYOM2_ENST00000523438.1_Missense_Mutation_p.E821D	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1396	Ig-like C2-type 5.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TGAAGGTGGAGCAGGCCAAGT	0.537000													21	36					2.37509e-13	3.94411e-13	1	1	0
OR56A3	390083	broad.mit.edu	37	11	5969017	5969017	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:5969017G>T	ENST00000329564.6	+	1	448	c.441G>T	c.(439-441)aaG>aaT	p.K147N		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGTAGTCAAGGCTGCCATGT	0.438000													18	62					1.02788e-11	1.63352e-11	1	1	0
FAM109B	150368	broad.mit.edu	37	22	42473551	42473551	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr22:42473551T>C	ENST00000321753.3	+	3	441	c.254T>C	c.(253-255)tTt>tCt	p.F85S		NM_001002034.2	NP_001002034.2	Q6ICB4	SESQ2_HUMAN	family with sequence similarity 109, member B	85	PH.				endosome organization|receptor recycling|retrograde transport, endosome to Golgi	clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network	protein homodimerization activity			endometrium(2)|large_intestine(2)|liver(2)|lung(1)|prostate(1)	8						CCCGAGGAGTTTGCCTTTGCC	0.672000													21	82					0	0	1	0	0
SP6	80320	broad.mit.edu	37	17	45925246	45925246	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:45925246C>A	ENST00000536300.1	-	2	881	c.550G>T	c.(550-552)Ggg>Tgg	p.G184W	SP6_ENST00000342234.2_Missense_Mutation_p.G184W	NM_001258248.1	NP_001245177.1	Q3SY56	SP6_HUMAN	Sp6 transcription factor	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						TCGGGCGGCCCTAGGAGATGC	0.711000													3	17					1	1	1	1	0
PLXNA4	91584	broad.mit.edu	37	7	131887557	131887557	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:131887557C>A	ENST00000359827.3	-	12	3396	c.2434G>T	c.(2434-2436)Ggg>Tgg	p.G812W	PLXNA4_ENST00000321063.4_Missense_Mutation_p.G812W			Q9HCM2	PLXA4_HUMAN	plexin A4	812	PSI 3.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AGGCACAGCCCGCAGCTCTCA	0.652000													4	34					0.00909568	0.00962192	1	1	0
BPIFA1	51297	broad.mit.edu	37	20	31825890	31825890	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr20:31825890C>A	ENST00000354297.4	+	3	261	c.190C>A	c.(190-192)Ctg>Atg	p.L64M	BPIFA1_ENST00000375413.4_Missense_Mutation_p.L64M|BPIFA1_ENST00000375422.2_Missense_Mutation_p.L64M	NM_130852.2	NP_570913.1	Q9NP55	PLUNC_HUMAN	BPI fold containing family A, member 1	64					innate immune response	extracellular region	lipid binding										GTCTGGGGGCCTGTTGGGCAT	0.587000													13	52					0.00185496	0.00202391	1	1	0
ALDH1A3	220	broad.mit.edu	37	15	101432774	101432774	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr15:101432774G>T	ENST00000329841.5	+	4	937	c.405G>T	c.(403-405)gaG>gaT	p.E135D	ALDH1A3_ENST00000346623.6_Intron	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	135					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	TCGACCTGGAGGGCTGTATTA	0.483000													8	29					3.09899e-07	4.1471e-07	1	1	0
SLC13A1	6561	broad.mit.edu	37	7	122809294	122809294	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:122809294A>T	ENST00000194130.2	-	4	500	c.461T>A	c.(460-462)gTa>gAa	p.V154E	SLC13A1_ENST00000539873.1_Missense_Mutation_p.V90E	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	154						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	CTGCTGCACTACAGCCTCCGC	0.522000													31	26					0	0	1	0	0
TMEM117	84216	broad.mit.edu	37	12	44238526	44238526	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:44238526C>A	ENST00000266534.3	+	2	199	c.72C>A	c.(70-72)ttC>ttA	p.F24L	TMEM117_ENST00000551577.1_Missense_Mutation_p.F24L	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	24						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		TGGTGATCTTCTTTAACTTCT	0.383000													17	29					1.15088e-07	1.5679e-07	1	1	0
TANC1	85461	broad.mit.edu	37	2	160006929	160006929	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:160006929A>T	ENST00000263635.6	+	7	781	c.544A>T	c.(544-546)Agc>Tgc	p.S182C	TANC1_ENST00000454300.1_Intron	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	182	Ser-rich.					cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						ACTAACAAGCAGCACCGCATC	0.532000													11	30					0	0	1	0	0
PRR5L	79899	broad.mit.edu	37	11	36484051	36484051	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:36484051C>A	ENST00000378867.3	+	10	1227	c.872C>A	c.(871-873)aCg>aAg	p.T291K	PRR5L_ENST00000311599.5_Missense_Mutation_p.T218K|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000530639.1_Missense_Mutation_p.T291K	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	291								p.T291M(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						CGGCGGCACACGGTGGCCAAT	0.642000													15	37					2.61681e-11	4.12095e-11	1	1	0
PCDH12	51294	broad.mit.edu	37	5	141334600	141334600	+	Silent	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:141334600A>T	ENST00000231484.3	-	1	4027	c.2817T>A	c.(2815-2817)tcT>tcA	p.S939S		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	939					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCAGCCACAGACAGCCGGA	0.612000													36	98					0	0	1	0	0
HOMER1	9456	broad.mit.edu	37	5	78746812	78746812	+	Splice_Site	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:78746812C>A	ENST00000334082.6	-	3	1737		c.e3+1		HOMER1_ENST00000282260.6_Splice_Site|HOMER1_ENST00000508576.1_Splice_Site|HOMER1_ENST00000535690.1_Intron	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)						activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		ATTTAACTCACTTTCGAAAGA	0.338000													3	16					0.115264	0.117981	1	1	0
LEPREL1	55214	broad.mit.edu	37	3	189838137	189838137	+	Silent	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:189838137G>A	ENST00000319332.5	-	1	581	c.384C>T	c.(382-384)ctC>ctT	p.L128L	LEPREL1_ENST00000427335.2_Intron	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	128					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CGGGGCCCCCGAGGCGCTGGG	0.711000													4	15					0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186515056	186515056	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr4:186515056G>A	ENST00000431808.1	-	20	3681	c.3118C>T	c.(3118-3120)Caa>Taa	p.Q1040*	SORBS2_ENST00000284776.7_Nonsense_Mutation_p.Q1040*|RP11-301L8.2_ENST00000411847.1_RNA|SORBS2_ENST00000449407.2_Nonsense_Mutation_p.Q584*|SORBS2_ENST00000448662.2_Nonsense_Mutation_p.Q601*|SORBS2_ENST00000437304.2_Nonsense_Mutation_p.Q764*|SORBS2_ENST00000418609.1_Nonsense_Mutation_p.Q944*|SORBS2_ENST00000393528.3_Nonsense_Mutation_p.Q606*|SORBS2_ENST00000355634.5_Nonsense_Mutation_p.Q1140*|SORBS2_ENST00000319471.9_Nonsense_Mutation_p.Q671*			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	1040						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CCCCCACCTTGAATATTTTCA	0.343000													3	10					0	0	1	0	0
ZFP82	284406	broad.mit.edu	37	19	36900690	36900690	+	Translation_Start_Site	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:36900690A>T	ENST00000392161.3	-	2	244	c.2T>A	c.(1-3)aTg>aAg	p.M1K	ZFP82_ENST00000392171.1_Start_Codon_SNP_p.M1K	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	1					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TACAAGGGCCATGGTATAGAA	0.438000													15	16					0	0	1	0	0
MUC1	4582	broad.mit.edu	37	1	155160949	155160949	+	Missense_Mutation	SNP	A	A	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:155160949A>C	ENST00000368395.1	-	3	649	c.578T>G	c.(577-579)gTg>gGg	p.V193G	MUC1_ENST00000368389.2_Intron|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000368392.3_Intron|MUC1_ENST00000368390.3_Intron|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000457295.2_Intron|MUC1_ENST00000462215.1_5'UTR|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000368398.3_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000337604.5_Intron	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	973	42 X 20 AA approximate tandem repeats of P-A-P-G-S-T-A-P-P-A-H-G-V-T-S-A-P-D-T-R.					apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCCGTTGTGCACCAGAGTAGA	0.622000			T	IGH@	B-NHL								19	11					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131861888	131861888	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:131861888G>T	ENST00000286355.5	-	10	4464	c.2372C>A	c.(2371-2373)gCa>gAa	p.A791E	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	791					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			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)			CAAAATGGATGCAAAGATGAT	0.438000										HNSCC(32;0.087)			4	47					1	1	1	1	0
PCDHB1	29930	broad.mit.edu	37	5	140431764	140431764	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:140431764G>A	ENST00000306549.3	+	1	786	c.709G>A	c.(709-711)Gac>Aac	p.D237N		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		237	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D237N(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGATGTCAACGACCACGTGCC	0.597000													11	39					0	0	1	0	0
PTER	9317	broad.mit.edu	37	10	16526626	16526626	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:16526626G>T	ENST00000378000.1	+	3	489	c.243G>T	c.(241-243)aaG>aaT	p.K81N	PTER_ENST00000535784.2_Missense_Mutation_p.K81N|PTER_ENST00000298942.3_Missense_Mutation_p.K81N|PTER_ENST00000423462.2_Missense_Mutation_p.K81N	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	81					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						AAGCCATAAAGGAAGAACTGT	0.403000													12	49					3.07112e-06	3.87684e-06	1	1	0
OVCH1	341350	broad.mit.edu	37	12	29649562	29649562	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:29649562G>T	ENST00000318184.5	-	2	109	c.110C>A	c.(109-111)cCt>cAt	p.P37H		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	37					proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TCCCACGGCAGGTTCCTTACT	0.438000													4	30					0.00024832	0.000283026	1	1	0
OR5D18	219438	broad.mit.edu	37	11	55587399	55587399	+	Nonsense_Mutation	SNP	C	C	A	rs147156620	by1000genomes	TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:55587399C>A	ENST00000333976.4	+	1	314	c.294C>A	c.(292-294)tgC>tgA	p.C98*		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TTTTAGGATGCGTAGTACAAT	0.433000													20	100					3.99206e-14	6.74533e-14	1	1	0
ABCG8	64241	broad.mit.edu	37	2	44078921	44078921	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:44078921G>C	ENST00000272286.2	+	4	611	c.521G>C	c.(520-522)cGg>cCg	p.R174P		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	174	ABC transporter.				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)				GCCCAGATGCGGCTGCCCAGA	0.612000													19	115					0	0	1	0	0
MYLK2	85366	broad.mit.edu	37	20	30419514	30419514	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr20:30419514G>C	ENST00000375994.2	+	10	1706	c.1433G>C	c.(1432-1434)gGc>gCc	p.G478A	MYLK2_ENST00000375985.4_Missense_Mutation_p.G478A|MYLK2_ENST00000468730.1_3'UTR			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	478	Protein kinase.				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGGCTGAGCGGCCTCTCCCCC	0.562000													38	57					0	0	1	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123170639	123170639	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:123170639T>A	ENST00000349780.4	-	31	4891	c.4712A>T	c.(4711-4713)cAc>cTc	p.H1571L	CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.H1571L|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.H1539L|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.H1530L	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1571					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CAGTCTCCTGTGCTCTTCATC	0.557000													56	39					0	0	1	0	0
IRF6	3664	broad.mit.edu	37	1	209968635	209968635	+	Splice_Site	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:209968635C>G	ENST00000367021.3	-	5	680	c.508_splice	c.e5+1	p.G170_splice	IRF6_ENST00000542854.1_Splice_Site_p.G75_splice	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	170					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CCCCACTCACCATTGATGTTC	0.498000										HNSCC(57;0.16)			39	84					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27803570	27803570	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:27803570C>A	ENST00000408964.2	+	1	4182	c.4131C>A	c.(4129-4131)gaC>gaA	p.D1377E		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1377										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AGCCTGTGGACGGGACAAGGC	0.463000													21	47					4.96729e-08	6.91361e-08	1	1	0
GRM8	2918	broad.mit.edu	37	7	126883135	126883135	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:126883135C>A	ENST00000339582.2	-	2	932	c.124G>T	c.(124-126)Gtg>Ttg	p.V42L	GRM8_ENST00000444921.2_Missense_Mutation_p.V42L|GRM8_ENST00000405249.1_Missense_Mutation_p.V42L|GRM8_ENST00000358373.3_Missense_Mutation_p.V42L			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	42					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TCCCCATCCACCCGTATGGAA	0.527000										HNSCC(24;0.065)			40	40					3.33393e-15	5.75079e-15	1	1	0
MAP3K5	4217	broad.mit.edu	37	6	137019812	137019812	+	Silent	SNP	A	A	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:137019812A>G	ENST00000359015.4	-	4	981	c.621T>C	c.(619-621)acT>acC	p.T207T		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	207					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TGTAGTTCCCAGTGCACATCT	0.493000													16	9					0	0	1	0	0
RPL18A	6142	broad.mit.edu	37	19	17973773	17973773	+	Silent	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:17973773G>A	ENST00000600147.1	+	4	411	c.375G>A	c.(373-375)caG>caA	p.Q125Q	RPL18A_ENST00000599870.1_Silent_p.Q96Q|RPL18A_ENST00000599898.1_Silent_p.Q86Q|RPL18A_ENST00000222247.5_Silent_p.Q125Q			Q02543	RL18A_HUMAN	ribosomal protein L18a	125					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						ACTCCATTCAGATCATGAAGG	0.667000													25	33					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100836125	100836125	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:100836125G>T	ENST00000358544.2	+	51	9435	c.9324G>T	c.(9322-9324)aaG>aaT	p.K3108N	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.K3083N	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3108					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)			TTGAAGACAAGACTACAATAA	0.318000													9	61					7.48243e-07	9.81645e-07	1	1	0
SPEG	10290	broad.mit.edu	37	2	220349130	220349130	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:220349130G>C	ENST00000312358.7	+	30	7077	c.6945G>C	c.(6943-6945)agG>agC	p.R2315S	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2315	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)		TGCCCCCCAGGCCAGGCAGCA	0.697000													6	25					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3240328	3240328	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chrX:3240328C>T	ENST00000217939.6	-	5	3552	c.3398G>A	c.(3397-3399)aGg>aAg	p.R1133K		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1133						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)				AACTTTTTGCCTTGGTGTTGT	0.517000													47	19					0	0	1	0	0
OR6K3	391114	broad.mit.edu	37	1	158687842	158687842	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:158687842C>A	ENST00000368146.1	-	1	111	c.112G>T	c.(112-114)Gat>Tat	p.D38Y	OR6K3_ENST00000368145.1_Missense_Mutation_p.D22Y			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					AGACTACCATCCTGAAGCTGA	0.388000													6	26					0.00116845	0.00128212	1	1	0
GABRA2	2555	broad.mit.edu	37	4	46252558	46252558	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr4:46252558C>A	ENST00000510861.1	-	10	1296	c.1123G>T	c.(1123-1125)Gcc>Tcc	p.A375S	GABRA2_ENST00000514090.1_Missense_Mutation_p.A375S|GABRA2_ENST00000356504.1_Missense_Mutation_p.A375S|GABRA2_ENST00000540012.1_Missense_Mutation_p.A380S|GABRA2_ENST00000381620.4_Missense_Mutation_p.A375S|GABRA2_ENST00000507069.1_Missense_Mutation_p.A435S			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	375					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AGATTCGGGGCATAATTGGCA	0.423000													8	41					0.00307968	0.00331849	1	1	0
PITPNM2	57605	broad.mit.edu	37	12	123480059	123480059	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:123480059C>A	ENST00000280562.5	-	13	2136	c.1931G>T	c.(1930-1932)aGc>aTc	p.S644I	PITPNM2_ENST00000392428.1_Missense_Mutation_p.S365I|PITPNM2_ENST00000542749.1_Missense_Mutation_p.S644I|PITPNM2_ENST00000320201.4_Missense_Mutation_p.S644I			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	644					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)		GTCGACGTTGCTTCGGCTCAG	0.657000													15	72					0.00244969	0.00265779	1	1	0
RAD54L2	23132	broad.mit.edu	37	3	51696597	51696597	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:51696597C>A	ENST00000409535.1	+	22	3690	c.3565C>A	c.(3565-3567)Cgg>Agg	p.R1189R	RAD54L2_ENST00000296477.3_Silent_p.R883R	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	1189						nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GGCTGCTGCCCGGGAATCCCG	0.647000													11	66					3.07112e-06	3.87684e-06	1	1	0
PAX4	5078	broad.mit.edu	37	7	127255515	127255515	+	Silent	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:127255515C>T	ENST00000341640.2	-	1	265	c.60G>A	c.(58-60)caG>caA	p.Q20Q	PAX4_ENST00000378740.2_Silent_p.Q20Q|PAX4_ENST00000463946.1_5'UTR|PAX4_ENST00000338516.3_Silent_p.Q28Q	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	28	Paired.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GCACAATCTGCTGCCGGGTAT	0.587000													27	126					0	0	1	0	0
FFAR2	2867	broad.mit.edu	37	19	35941414	35941414	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:35941414C>A	ENST00000599180.1	+	2	878	c.798C>A	c.(796-798)gcC>gcA	p.A266A	FFAR2_ENST00000246549.2_Silent_p.A266A|FFAR2_ENST00000601590.1_Intron			O15552	FFAR2_HUMAN	free fatty acid receptor 2	266						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CACTCAACGCCAGTCTGGACC	0.577000													25	130					2.98393e-07	4.02102e-07	1	1	0
FABP6	2172	broad.mit.edu	37	5	159656631	159656631	+	Splice_Site	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:159656631G>T	ENST00000393980.4	+	4	360	c.214_splice	c.e4+1	p.G72_splice	FABP6_ENST00000393982.1_Splice_Site_p.G72_splice|FABP6_ENST00000402432.3_Splice_Site_p.G23_splice	NM_001130958.1	NP_001124430.1	P51161	FABP6_HUMAN	fatty acid binding protein 6, ileal	23					bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation	cytosol	transporter activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAAGCTCCTTGGTGAGTGAGC	0.537000													18	86					9.16793e-09	1.33038e-08	1	1	0
FAM91A1	157769	broad.mit.edu	37	8	124796773	124796773	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:124796773A>G	ENST00000334705.7	+	9	1013	c.767A>G	c.(766-768)tAt>tGt	p.Y256C	FAM91A1_ENST00000521166.1_Missense_Mutation_p.Y256C	NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	256										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			ACTCTACTCTATAAGATATTT	0.333000													5	20					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196697571	196697571	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:196697571A>T	ENST00000367429.4	+	15	2572	c.2332A>T	c.(2332-2334)Agg>Tgg	p.R778W		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	778	Sushi 13.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTCTAACATAAGGTACAGATG	0.318000													8	10					0	0	1	0	0
CRYGA	1418	broad.mit.edu	37	2	209025676	209025676	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:209025676A>G	ENST00000304502.4	-	3	396	c.377T>C	c.(376-378)gTa>gCa	p.V126A		NM_014617.3	NP_055432.2			crystallin, gamma A											endometrium(1)|kidney(3)|large_intestine(1)|lung(7)	12				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)		GCCCTCCAGTACGTGGAGGGA	0.572000													50	50					0	0	1	0	0
VEZT	55591	broad.mit.edu	37	12	95694210	95694210	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:95694210C>T	ENST00000436874.1	+	12	2206	c.2101C>T	c.(2101-2103)Caa>Taa	p.Q701*	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Nonsense_Mutation_p.Q653*	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	701						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						AGATGAACCACAAGCAGATGG	0.473000													12	34					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139263235	139263235	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:139263235G>T	ENST00000395297.1	-	6	561	c.391C>A	c.(391-393)Ccg>Acg	p.P131T		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	131										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTGACCATCGGTGCCCCAGCC	0.572000										HNSCC(54;0.14)			28	263					3.65163e-15	6.29254e-15	1	1	0
TMPRSS15	5651	broad.mit.edu	37	21	19737526	19737526	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr21:19737526G>T	ENST00000284885.3	-	7	737	c.704C>A	c.(703-705)tCt>tAt	p.S235Y		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	235	CUB 1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GAAAGACCCAGATGATCCAGT	0.373000													11	10					2.80697e-09	4.13196e-09	1	1	0
CRMP1	1400	broad.mit.edu	37	4	5868436	5868436	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr4:5868436T>A	ENST00000324989.7	-	2	517	c.429A>T	c.(427-429)caA>caT	p.Q143H	CRMP1_ENST00000512574.1_Missense_Mutation_p.Q27H|CRMP1_ENST00000397890.2_Missense_Mutation_p.Q29H|CRMP1_ENST00000511535.1_5'UTR	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	29					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CATAAAGGGATTGGTCATCGT	0.478000													7	43					0	0	1	0	0
SH2B1	25970	broad.mit.edu	37	16	28884519	28884519	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr16:28884519G>A	ENST00000359285.5	+	9	2203	c.1979G>A	c.(1978-1980)gGg>gAg	p.G660E	SH2B1_ENST00000563674.1_3'UTR|SH2B1_ENST00000538342.1_Silent_p.G306G|SH2B1_ENST00000322610.8_Intron|SH2B1_ENST00000545570.1_Missense_Mutation_p.G350E|SH2B1_ENST00000395532.4_Silent_p.G642G|SH2B1_ENST00000337120.5_Silent_p.G642G	NM_001145795.1|NM_001145796.1|NM_001145797.1	NP_001139267.1|NP_001139268.1|NP_001139269.1	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	10					blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						GCCATGCGGGGGTGTGCGAGG	0.662000													3	17					0	0	1	0	0
RANBP17	64901	broad.mit.edu	37	5	170610374	170610374	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:170610374G>T	ENST00000523189.1	+	18	2142	c.1978G>T	c.(1978-1980)Gac>Tac	p.D660Y	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	660					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TAGTCTCAGCGACTTCAGGTG	0.403000			T	TRD@	ALL								10	8					1.08611e-07	1.48315e-07	1	1	0
C9orf129	445577	broad.mit.edu	37	9	96080695	96080695	+	Silent	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:96080695G>C	ENST00000375419.1	-	5	939	c.576C>G	c.(574-576)ctC>ctG	p.L192L	WNK2_ENST00000471076.1_Intron|WNK2_ENST00000349097.3_Intron|WNK2_ENST00000395477.2_Intron|WNK2_ENST00000395475.2_Intron|WNK2_ENST00000356055.3_Intron	NM_001098808.1	NP_001092278.1	Q5T035	CI129_HUMAN	chromosome 9 open reading frame 129	192										endometrium(2)|large_intestine(1)|lung(1)|ovary(2)	6						CAGGGGCTGAGAGACGGCGGG	0.562000													41	59					0	0	1	0	0
NAA60	79903	broad.mit.edu	37	16	3533407	3533407	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr16:3533407G>C	ENST00000407558.4	+	6	685	c.382G>C	c.(382-384)Gcc>Ccc	p.A128P	LA16c-306E5.3_ENST00000574423.2_RNA|NAA60_ENST00000576916.1_Intron|LA16c-306E5.2_ENST00000575785.1_RNA|NAA60_ENST00000573580.1_Missense_Mutation_p.A63P|NAA60_ENST00000414063.2_Missense_Mutation_p.A128P|NAA60_ENST00000577013.1_Intron|NAA60_ENST00000572942.1_Intron|NAA60_ENST00000421765.3_Intron|NAA60_ENST00000424546.2_Missense_Mutation_p.A135P|NAA60_ENST00000360862.5_Missense_Mutation_p.A63P|NAA60_ENST00000570551.1_3'UTR|NAA60_ENST00000575076.1_Missense_Mutation_p.A128P|NAA60_ENST00000570819.1_Intron|NAA60_ENST00000572584.1_Missense_Mutation_p.A128P	NM_001083601.1	NP_001077070.1	Q9H7X0	NAT15_HUMAN	N(alpha)-acetyltransferase 60, NatF catalytic subunit	128	N-acetyltransferase.						N-acetyltransferase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)	7						ATCAACCACCGCCCAGGACCA	0.458000													8	16					0	0	1	0	0
CREB5	9586	broad.mit.edu	37	7	28848934	28848934	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:28848934G>C	ENST00000357727.2	+	9	1547	c.1157G>C	c.(1156-1158)cGg>cCg	p.R386P	CREB5_ENST00000396299.2_Missense_Mutation_p.R353P|CREB5_ENST00000409603.1_Missense_Mutation_p.R353P|CREB5_ENST00000396300.2_Missense_Mutation_p.R379P|CREB5_ENST00000396298.2_Missense_Mutation_p.R247P	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	386					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						GAACGGAACCGGGCAGCTGCC	0.592000													25	42					0	0	1	0	0
PSMD13	5719	broad.mit.edu	37	11	237093	237093	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:237093G>T	ENST00000532097.1	+	1	548	c.44G>T	c.(43-45)gGg>gTg	p.G15V	PSMD13_ENST00000431206.2_Missense_Mutation_p.G15V|PSMD13_ENST00000352303.5_Missense_Mutation_p.G15V	NM_002817.3	NP_002808.3	Q9UNM6	PSD13_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 13	15					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding			NS(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	10		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.79e-27)|Epithelial(43;4e-26)|OV - Ovarian serous cystadenocarcinoma(40;6.02e-21)|BRCA - Breast invasive adenocarcinoma(625;3.93e-05)|Lung(200;0.112)|LUSC - Lung squamous cell carcinoma(625;0.129)		CAGAACTCCGGGCCCGGGCAG	0.662000													5	19					1.024e-07	1.40942e-07	1	1	0
FCN2	2220	broad.mit.edu	37	9	137772744	137772744	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:137772744T>C	ENST00000350339.2	+	1	91	c.77T>C	c.(76-78)cTc>cCc	p.L26P	FCN2_ENST00000291744.6_Missense_Mutation_p.L26P	NM_015837.2	NP_056652.1	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	26					complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		GCCTGGGCTCTCCAGGCGGCA	0.607000													4	15					0	0	1	0	0
KRT83	3889	broad.mit.edu	37	12	52710278	52710278	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:52710278C>T	ENST00000293670.3	-	6	1077	c.1015G>A	c.(1015-1017)Gcc>Acc	p.A339T		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	339	Coil 2.|Rod.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCACCTCGGCTGTCAGCCTC	0.602000													16	107					0	0	1	0	0
FTSJ3	117246	broad.mit.edu	37	17	61904196	61904196	+	Splice_Site	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:61904196C>T	ENST00000427159.2	-	2	712	c.67_splice	c.e2+1	p.G23_splice		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	23					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CCGGACTCACCCGTCTCCTTC	0.572000													41	54					0	0	1	0	0
OR9G1	390174	broad.mit.edu	37	11	56468472	56468472	+	Silent	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:56468472C>T	ENST00000312153.1	+	1	609	c.609C>T	c.(607-609)gcC>gcT	p.A203A		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1											breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						TCCTGCTGGCCTCCAATGTCA	0.502000													27	115					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141641449	141641449	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:141641449C>A	ENST00000389484.3	-	25	5077	c.4106G>T	c.(4105-4107)aGa>aTa	p.R1369I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1369					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)		TAGTGTAGTTCTTAGGGAGCC	0.458000										TSP Lung(27;0.18)			15	47					3.27435e-08	4.62779e-08	1	1	0
DOCK7	85440	broad.mit.edu	37	1	63021549	63021549	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:63021549T>A	ENST00000251157.5	-	21	2576	c.2543A>T	c.(2542-2544)tAt>tTt	p.Y848F	DOCK7_ENST00000340370.5_Missense_Mutation_p.Y848F	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	848					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						ATAATGAATATATGATGCAAG	0.343000													8	21					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10442632	10442632	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:10442632C>T	ENST00000245503.5	-	14	1690	c.1306G>A	c.(1306-1308)Gag>Aag	p.E436K	MYH2_ENST00000397183.2_Missense_Mutation_p.E436K|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Missense_Mutation_p.E436K	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	436	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	p.E436*(1)		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						AACATCTTCTCGTAGACGGCT	0.483000													106	89					0	0	1	0	0
PMS1	5378	broad.mit.edu	37	2	190728661	190728661	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:190728661G>T	ENST00000441310.2	+	10	2282	c.2049G>T	c.(2047-2049)caG>caT	p.Q683H	PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000432292.3_Missense_Mutation_p.Q507H|PMS1_ENST00000409823.3_Missense_Mutation_p.Q644H|PMS1_ENST00000418224.3_Missense_Mutation_p.Q507H|PMS1_ENST00000447232.2_Intron	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	683					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)			AACTCCTTCAGTCCCAAATTG	0.323000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)					12	15					9.05144e-12	1.4464e-11	1	1	0
IZUMO2	126123	broad.mit.edu	37	19	50657932	50657932	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:50657932G>C	ENST00000293405.3	-	6	548	c.548C>G	c.(547-549)cCg>cGg	p.P183R		NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN	IZUMO family member 2	183						integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						CTGGTTCCTCGGGTATTTGCT	0.617000													25	42					0	0	1	0	0
ALG13	79868	broad.mit.edu	37	X	110928266	110928266	+	Silent	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chrX:110928266C>T	ENST00000394780.3	+	3	330	c.318C>T	c.(316-318)aaC>aaT	p.N106N	ALG13_ENST00000371979.3_Silent_p.N106N|ALG13_ENST00000251943.4_Silent_p.N2N	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	106					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						AGTTGATGAACAATCATCAGC	0.393000													8	79					0	0	1	0	0
FAM160A2	84067	broad.mit.edu	37	11	6240209	6240209	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:6240209C>A	ENST00000265978.4	-	7	1621	c.1263G>T	c.(1261-1263)ctG>ctT	p.L421L	FAM160A2_ENST00000524416.1_Silent_p.L421L|FAM160A2_ENST00000449352.2_Silent_p.L421L	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	421					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACCTGAGAACCAGCTGCAGCA	0.582000													9	18					5.4927e-09	8.02424e-09	1	1	0
LMLN	89782	broad.mit.edu	37	3	197765466	197765466	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:197765466G>T	ENST00000330198.4	+	16	1918	c.1896G>T	c.(1894-1896)gtG>gtT	p.V632V	LMLN-AS1_ENST00000423460.1_RNA|LMLN_ENST00000420910.2_Silent_p.V669V|LMLN_ENST00000482695.1_Silent_p.V617V|LMLN_ENST00000332636.5_Silent_p.V580V	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	632					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		CGAGCCTGGTGGTCACCCTCT	0.388000													16	73					2.32078e-09	3.44842e-09	1	1	0
WDR11	55717	broad.mit.edu	37	10	122622260	122622260	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:122622260G>T	ENST00000263461.6	+	5	786	c.540G>T	c.(538-540)gaG>gaT	p.E180D		NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	180						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						TTACCAGCGAGGGTATTGTTT	0.398000													21	112					1.40151e-16	2.49173e-16	1	1	0
WBP11P1	441818	broad.mit.edu	37	18	30092374	30092374	+	RNA	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr18:30092374G>A	ENST00000567636.1	+	0	749					NR_003558.1																						CTTGGGACGTGGTGTTCCACA	0.557000													9	39					0	0	1	0	0
TTYH2	94015	broad.mit.edu	37	17	72246116	72246116	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:72246116C>A	ENST00000441391.2	+	3	1221	c.9C>A	c.(7-9)atC>atA	p.I3I	TTYH2_ENST00000529107.1_Silent_p.I303I|TTYH2_ENST00000534346.1_3'UTR|TTYH2_ENST00000269346.4_Silent_p.I324I	NM_052869.1	NP_443101.1	Q9BSA4	TTYH2_HUMAN	tweety family member 2	324						chloride channel complex|plasma membrane	chloride channel activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						CCATGCAGATCCAGGTCGCGG	0.632000													19	181					8.10497e-08	1.11644e-07	1	1	0
WSCD2	9671	broad.mit.edu	37	12	108600148	108600148	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:108600148C>A	ENST00000332082.4	+	4	1283	c.465C>A	c.(463-465)acC>acA	p.T155T	WSCD2_ENST00000261400.3_Silent_p.T155T|WSCD2_ENST00000547525.1_Silent_p.T155T|WSCD2_ENST00000549903.1_Silent_p.T155T			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	155	WSC 1.					integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						AAAAGATGACCATCTTCCGTT	0.517000													7	42					2.0095e-06	2.57411e-06	1	1	0
KIF12	113220	broad.mit.edu	37	9	116858338	116858338	+	Silent	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:116858338C>G	ENST00000374118.3	-	6	711	c.474G>C	c.(472-474)ctG>ctC	p.L158L	KIF12_ENST00000473174.1_Intron	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	291	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						CACCCAGGGCCAGCAGGCTTC	0.602000													19	93					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139418375	139418375	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:139418375G>T	ENST00000277541.6	-	3	272	c.197C>A	c.(196-198)aCc>aAc	p.T66N		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	66	EGF-like 2.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CTTGCAGGGGGTGCTGAGGCA	0.677000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			5	4					0.184627	0.186887	1	1	0
KIAA1462	57608	broad.mit.edu	37	10	30317641	30317641	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:30317641C>T	ENST00000375377.1	-	3	1537	c.1436G>A	c.(1435-1437)aGc>aAc	p.S479N		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	479										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GGGTATTAAGCTCTGTGGATT	0.577000													30	123					0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21174168	21174168	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr22:21174168T>A	ENST00000255882.6	-	6	636	c.550A>T	c.(550-552)Atc>Ttc	p.I184F	PI4KA_ENST00000572273.1_Missense_Mutation_p.I126F	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	126					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)			AGGCATGGGATAGCATACTTG	0.403000													91	41					0	0	1	0	0
TAOK3	51347	broad.mit.edu	37	12	118610378	118610378	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:118610378C>T	ENST00000392533.3	-	17	2273	c.1783G>A	c.(1783-1785)Gaa>Aaa	p.E595K	TAOK3_ENST00000537952.1_Missense_Mutation_p.E135K|TAOK3_ENST00000419821.2_Missense_Mutation_p.E595K	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	595					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCTTCCTCTTCAGCCTGTGTG	0.453000													43	79					0	0	1	0	0
ACADL	33	broad.mit.edu	37	2	211070520	211070520	+	Splice_Site	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:211070520C>A	ENST00000233710.3	-	6	831	c.603_splice	c.e6-1	p.V202_splice	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	202					carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		CTGATGAACACCTGCAAAACC	0.383000													7	14					0.000157383	0.000181765	1	1	0
NLE1	54475	broad.mit.edu	37	17	33464163	33464163	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:33464163G>T	ENST00000442241.4	-	7	724	c.685C>A	c.(685-687)Cgg>Agg	p.R229R	NLE1_ENST00000593176.1_5'UTR|NLE1_ENST00000586869.1_5'UTR|NLE1_ENST00000360831.5_Silent_p.R187R	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	229						nucleolus				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				TCCCAGATCCGCACACTGCCA	0.617000													42	49					5.59293e-11	8.75218e-11	1	1	0
ZFPM2	23414	broad.mit.edu	37	8	106814407	106814407	+	Silent	SNP	C	C	T	rs139368368	by1000genomes	TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:106814407C>T	ENST00000407775.2	+	8	2347	c.2097C>T	c.(2095-2097)caC>caT	p.H699H	ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000378472.4_Silent_p.H430H|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000520492.1_Silent_p.H567H|ZFPM2_ENST00000517361.1_Silent_p.H567H	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	699					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TCAGCCGGCACGAAACATACA	0.488000													6	38					0	0	1	0	0
TIMD4	91937	broad.mit.edu	37	5	156349189	156349189	+	Silent	SNP	G	G	T	rs144013769		TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:156349189G>T	ENST00000274532.2	-	7	989	c.933C>A	c.(931-933)ccC>ccA	p.P311P	TIMD4_ENST00000407087.3_Silent_p.P283P|TIMD4_ENST00000406964.1_Silent_p.P13P	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	311						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTTGGGAGATGGGCATTTCAT	0.517000													4	37					1.23904e-05	1.51032e-05	1	1	0
SAPCD2	89958	broad.mit.edu	37	9	139959603	139959603	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:139959603C>A	ENST00000409687.3	-	4	993	c.866G>T	c.(865-867)gGg>gTg	p.G289V		NM_178448.3	NP_848543.2	Q86UD0	CI140_HUMAN	suppressor APC domain containing 2	289						cytoplasm|nucleus											CAGTAGCCGCCCCAGTGGGCG	0.677000													3	3					0.115264	0.117981	1	1	0
MEAF6	64769	broad.mit.edu	37	1	37975116	37975116	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:37975116C>A	ENST00000373075.2	-	3	250	c.234G>T	c.(232-234)agG>agT	p.R78S	MEAF6_ENST00000475828.1_5'UTR|MEAF6_ENST00000373073.4_Missense_Mutation_p.R78S|MEAF6_ENST00000373074.1_Missense_Mutation_p.R56S|MEAF6_ENST00000296214.5_Missense_Mutation_p.R78S|MEAF6_ENST00000448519.2_Missense_Mutation_p.R78S	NM_022756.4	NP_073593.2	Q9HAF1	EAF6_HUMAN	MYST/Esa1-associated factor 6	78					histone H2A acetylation|histone H3-K14 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|NuA4 histone acetyltransferase complex|nucleolus	protein binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						ACTTCCGGTTCCTTCGATCAT	0.473000													16	59					0.000308642	0.000348577	1	1	0
TCP11L1	55346	broad.mit.edu	37	11	33065472	33065472	+	Silent	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:33065472G>A	ENST00000334274.4	+	2	553	c.153G>A	c.(151-153)caG>caA	p.Q51Q	TCP11L1_ENST00000531632.2_Silent_p.Q51Q|TCP11L1_ENST00000530171.1_3'UTR|TCP11L1_ENST00000432887.1_Silent_p.Q51Q	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1	51										kidney(1)|liver(2)|lung(2)|skin(1)	6						AAAGAGTGCAGAGACCTCACT	0.468000													4	45					0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138618075	138618075	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:138618075G>A	ENST00000251691.4	+	21	3797	c.3631G>A	c.(3631-3633)Gcc>Acc	p.A1211T		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	1211					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GAGCCTTGTGGCCCCACACCT	0.622000													51	45					0	0	1	0	0
EED	8726	broad.mit.edu	37	11	85988962	85988962	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:85988962G>T	ENST00000263360.6	+	11	1814	c.1128G>T	c.(1126-1128)atG>atT	p.M376I	EED_ENST00000351625.6_Missense_Mutation_p.M401I|EED_ENST00000327320.4_Missense_Mutation_p.M376I|EED_ENST00000527888.1_Missense_Mutation_p.M41I|EED_ENST00000528180.1_Missense_Mutation_p.M296I	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	376	Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				TTATACAGATGCTTGCATTGG	0.313000													10	11					1.33987e-11	2.12544e-11	1	1	0
MARCH10	162333	broad.mit.edu	37	17	60802428	60802428	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:60802428A>T	ENST00000544856.2	-	8	2350	c.1972T>A	c.(1972-1974)Tgt>Agt	p.C658S	RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000311269.5_Missense_Mutation_p.C659S|MARCH10_ENST00000583600.1_Missense_Mutation_p.C697S|RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000584597.1_RNA|RP11-156L14.1_ENST00000579201.1_RNA|MARCH10_ENST00000456609.2_Missense_Mutation_p.C659S			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	659							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CAGATGCGACACAAGTCTCCC	0.547000													79	113					0	0	1	0	0
DUSP3	1845	broad.mit.edu	37	17	41856199	41856199	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:41856199C>T	ENST00000226004.3	-	1	157	c.94G>A	c.(94-96)Gag>Aag	p.E32K	DUSP3_ENST00000397937.2_5'UTR	NM_004090.3	NP_004081.1	P51452	DUS3_HUMAN	dual specificity phosphatase 3	32					inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of JNK cascade|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of mitotic cell cycle|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|immunological synapse|nucleoplasm	MAP kinase phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	7		Breast(137;0.00725)		BRCA - Breast invasive adenocarcinoma(366;0.116)		GGGGTGACCTCGTTGCAGGGC	0.716000													3	2					0	0	1	0	0
MICA	100507436	broad.mit.edu	37	6	31378977	31378977	+	Missense_Mutation	SNP	G	G	A	rs111625841	by1000genomes	TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:31378977G>A	ENST00000449934.2	+	3	508	c.454G>A	c.(454-456)Gtg>Atg	p.V152M	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1	Q29983	MICA_HUMAN	MHC class I polypeptide-related sequence A	152			M -> V (in allele MICA*004, allele MICA*005, allele MICA*006, allele MICA*008, allele MICA*009, allele MICA*010, allele MICA*013, allele MICA*016, allele MICA*019, allele MICA*022, allele MICA*024, allele MICA*027, allele MICA*028, allele MICA*033, allele MICA*044, allele MICA*048, allele MICA*049, allele MICA*053, allele MICA*054 and allele MICA*056; reduces binding affinity for KLRK1; dbSNP:rs1051792).		antigen processing and presentation|cytolysis|defense response to bacterium|defense response to virus|gamma-delta T cell activation|immune response to tumor cell|response to DNA damage stimulus|response to heat|stimulatory C-type lectin receptor signaling pathway	cell surface|cytoplasm|extracellular space|integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding			breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				GGAATGGACAGTGCCCCAGTC	0.517000													5	26					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131883374	131883374	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:131883374G>C	ENST00000359827.3	-	13	3570	c.2608C>G	c.(2608-2610)Cgg>Ggg	p.R870G	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R870G			Q9HCM2	PLXA4_HUMAN	plexin A4	870	IPT/TIG 1.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCCCCTTCCCGGGGGCCTGTC	0.572000													5	68					0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57113515	57113515	+	Silent	SNP	G	G	C	rs143346946		TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr16:57113515G>C	ENST00000262510.6	+	46	5520	c.5295G>C	c.(5293-5295)acG>acC	p.T1765T	NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000308149.7_Silent_p.T1736T|NLRC5_ENST00000539144.1_Silent_p.T1736T	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1765					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)				CCAGCTTCACGAGCTGCCCTG	0.572000													36	26					0	0	1	0	0
HLA-E	3133	broad.mit.edu	37	6	30458997	30458997	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:30458997G>C	ENST00000376630.4	+	4	759	c.694G>C	c.(694-696)Gcg>Ccg	p.A232P		NM_005516.5	NP_005507.3	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	232	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						CTTCTACCCTGCGGAGATCAC	0.627000													87	155					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73961184	73961184	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chrX:73961184C>A	ENST00000373468.1	-	3	3859	c.3208G>T	c.(3208-3210)Gag>Tag	p.E1070*	KIAA2022_ENST00000055682.5_Nonsense_Mutation_p.E1070*			Q5QGS0	K2022_HUMAN	KIAA2022	1070					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GGGGACATCTCTGAAAGGGAA	0.498000													28	18					1.33986e-20	2.51333e-20	1	1	0
CMYA5	202333	broad.mit.edu	37	5	79027895	79027895	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:79027895G>T	ENST00000446378.2	+	2	3338	c.3307G>T	c.(3307-3309)Gta>Tta	p.V1103L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1103						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CTCAACATCTGTATCTGAATA	0.408000													12	11					1.61879e-10	2.50164e-10	1	1	0
ZNF423	23090	broad.mit.edu	37	16	49670951	49670951	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr16:49670951C>A	ENST00000561648.1	-	4	2165	c.2112G>T	c.(2110-2112)gtG>gtT	p.V704V	ZNF423_ENST00000562871.1_Silent_p.V644V|ZNF423_ENST00000562520.1_Silent_p.V644V|ZNF423_ENST00000262383.2_Silent_p.V704V|ZNF423_ENST00000563137.2_Silent_p.V644V|ZNF423_ENST00000535559.1_Silent_p.V587V|ZNF423_ENST00000567169.1_Silent_p.V587V	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	704					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GCAGGTCATCCACCGAGGAAA	0.557000													36	47					4.11147e-13	6.81453e-13	1	1	0
PLCL2	23228	broad.mit.edu	37	3	17052855	17052855	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:17052855G>T	ENST00000418129.2	+	2	2104	c.1639G>T	c.(1639-1641)Gct>Tct	p.A547S	PLCL2_ENST00000432376.1_Missense_Mutation_p.A547S|PLCL2_ENST00000396755.2_Missense_Mutation_p.A547S	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	673	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						ACGTTTTCTTGCTAGGGTTTT	0.398000													8	24					0.000157383	0.000181765	1	1	0
ZNF611	81856	broad.mit.edu	37	19	53208390	53208390	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:53208390G>A	ENST00000543227.1	-	6	2192	c.1918C>T	c.(1918-1920)Cat>Tat	p.H640Y	ZNF611_ENST00000319783.1_Missense_Mutation_p.H640Y|ZNF611_ENST00000540744.1_Missense_Mutation_p.H640Y|ZNF611_ENST00000602162.1_Missense_Mutation_p.H571Y|ZNF611_ENST00000453741.2_Missense_Mutation_p.H571Y|ZNF611_ENST00000595798.1_Missense_Mutation_p.H571Y	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	640					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		AGTCTACGATGGTATATAAGG	0.418000													14	76					0	0	1	0	0
OR51A2	401667	broad.mit.edu	37	11	4976401	4976401	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:4976401A>T	ENST00000380371.1	-	1	542	c.543T>A	c.(541-543)tgT>tgA	p.C181*	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTGGTGGAGACAGTAGGAAT	0.403000													12	8					0	0	1	0	0
TMEM64	169200	broad.mit.edu	37	8	91657520	91657520	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:91657520C>G	ENST00000458549.2	-	1	791	c.614G>C	c.(613-615)gGc>gCc	p.G205A	TMEM64_ENST00000418210.2_Missense_Mutation_p.G205A|TMEM64_ENST00000519519.1_Intron	NM_001008495.3	NP_001008495.2	Q6YI46	TMM64_HUMAN	transmembrane protein 64	205						integral to membrane				endometrium(1)|large_intestine(1)	2			BRCA - Breast invasive adenocarcinoma(11;0.0598)			GATGAAGGTGCCGATGAGGAC	0.642000											OREG0018858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	37					0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151271311	151271311	+	Splice_Site	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr4:151271311C>A	ENST00000535741.1	-	48	7668	c.7194_splice	c.e48-1	p.A2399_splice	LRBA_ENST00000510413.1_Splice_Site_p.A2399_splice|LRBA_ENST00000357115.3_Splice_Site_p.A2410_splice|LRBA_ENST00000507224.1_Splice_Site_p.A2399_splice|LRBA_ENST00000503716.1_5'UTR			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2410	BEACH.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CTCTCCAGGGCCTGAAAAAAG	0.373000													3	19					0.004672	0.00499401	1	1	0
DCDC2	51473	broad.mit.edu	37	6	24178855	24178855	+	Silent	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:24178855T>A	ENST00000378454.3	-	9	1330	c.1029A>T	c.(1027-1029)ccA>ccT	p.P343P	DCDC2_ENST00000378450.3_Silent_p.P96P	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	343					cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				CTATTTCTGCTGGCCTCTGAT	0.378000													16	60					0	0	1	0	0
SLC35D2	11046	broad.mit.edu	37	9	99126812	99126812	+	Silent	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:99126812T>A	ENST00000253270.7	-	3	275	c.213A>T	c.(211-213)atA>atT	p.I71I	SLC35D2_ENST00000482643.1_5'UTR|SLC35D2_ENST00000375257.1_Silent_p.I71I|SLC35D2_ENST00000375259.4_Silent_p.I71I	NM_007001.2	NP_008932.2	Q76EJ3	S35D2_HUMAN	solute carrier family 35 (UDP-GlcNAc/UDP-glucose transporter), member D2	71						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity			endometrium(3)|large_intestine(3)|lung(4)|skin(2)	12		Acute lymphoblastic leukemia(62;0.0167)				ACACATATAGTATCATTATGG	0.343000													10	34					0	0	1	0	0
FOXF1	2294	broad.mit.edu	37	16	86545012	86545012	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr16:86545012C>A	ENST00000262426.4	+	1	880	c.837C>A	c.(835-837)aaC>aaA	p.N279K		NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	279					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						CGGCGCTCAACAGCGGCGCCT	0.741000													7	6					5.18039e-06	6.50169e-06	1	1	0
INSRR	3645	broad.mit.edu	37	1	156811529	156811529	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:156811529C>A	ENST00000368195.3	-	20	3851	c.3455G>T	c.(3454-3456)gGg>gTg	p.G1152V	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1152	Protein kinase.				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)					GGGCAGCAGCCCCTTCCCACC	0.617000													75	118					4.37588e-27	8.65706e-27	1	1	0
GAR1	54433	broad.mit.edu	37	4	110743627	110743627	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr4:110743627G>A	ENST00000226796.6	+	5	818	c.554G>A	c.(553-555)aGa>aAa	p.R185K	GAR1_ENST00000394631.3_Missense_Mutation_p.R185K	NM_018983.3	NP_061856.1	Q9NY12	GAR1_HUMAN	GAR1 ribonucleoprotein	185	RGG-box 2.				rRNA processing|snRNA pseudouridine synthesis	box H/ACA snoRNP complex|Cajal body	cation channel activity|pseudouridine synthase activity|snoRNA binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						ggaggtggcagaggtggtggc	0.488000													16	18					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367816	145367816	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:145367816G>A	ENST00000342960.5	+	83	10447	c.10412G>A	c.(10411-10413)tGc>tAc	p.C3471Y	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3471										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AACCCACCATGCCCCAGGTGA	0.433000													6	49					0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39537683	39537683	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:39537683A>G	ENST00000265707.5	+	16	1804	c.1759A>G	c.(1759-1761)Atg>Gtg	p.M587V	ADAM18_ENST00000379866.1_Missense_Mutation_p.M563V|ADAM18_ENST00000541111.1_Start_Codon_SNP_p.M1V	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	587	Cys-rich.				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)			TGGTTCCTCCATGAGATCAGA	0.373000													5	4					0	0	1	0	0
GPR123	84435	broad.mit.edu	37	10	134906671	134906671	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:134906671C>A	ENST00000607359.1	+	10	1942	c.1942C>A	c.(1942-1944)Cac>Aac	p.H648N	GPR123_ENST00000392607.3_Intron			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	209						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		TGGCCCCGGACACCTCACCCG	0.582000													17	8					0.000422831	0.000477231	1	1	0
MAP3K7CL	56911	broad.mit.edu	37	21	30547055	30547055	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr21:30547055G>C	ENST00000399935.2	+	10	938	c.271G>C	c.(271-273)Gat>Cat	p.D91H	MAP3K7CL_ENST00000399947.2_Missense_Mutation_p.D191H|MAP3K7CL_ENST00000286791.5_3'UTR|MAP3K7CL_ENST00000341618.4_Missense_Mutation_p.D191H|MAP3K7CL_ENST00000399928.1_Missense_Mutation_p.D91H|MAP3K7CL_ENST00000399934.1_Missense_Mutation_p.D91H|MAP3K7CL_ENST00000399925.1_Missense_Mutation_p.D91H|MAP3K7CL_ENST00000339024.4_Missense_Mutation_p.D91H|MAP3K7CL_ENST00000545939.1_Missense_Mutation_p.D85H|MAP3K7CL_ENST00000399926.1_Missense_Mutation_p.D91H					MAP3K7 C-terminal like																		TGCCAAGTTAGATCAGGCAGA	0.473000													13	78					0	0	1	0	0
MOCOS	55034	broad.mit.edu	37	18	33795717	33795717	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr18:33795717G>T	ENST00000261326.5	+	8	1595	c.1574G>T	c.(1573-1575)gGc>gTc	p.G525V		NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	525					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	GCTGTCATGGGCAGACGTAGC	0.597000													13	43					1.61879e-10	2.50164e-10	1	1	0
NBAS	51594	broad.mit.edu	37	2	15506764	15506764	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:15506764G>A	ENST00000281513.5	-	32	3782	c.3757C>T	c.(3757-3759)Ccc>Tcc	p.P1253S	NBAS_ENST00000441750.1_Missense_Mutation_p.P1133S	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1253										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TAGCATGTGGGGGACTGGGAA	0.453000													3	20					0	0	1	0	0
MAGED1	9500	broad.mit.edu	37	X	51639804	51639804	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chrX:51639804G>T	ENST00000375695.2	+	5	1374	c.1221G>T	c.(1219-1221)caG>caT	p.Q407H	MAGED1_ENST00000375772.3_Missense_Mutation_p.Q351H|MAGED1_ENST00000326587.7_Missense_Mutation_p.Q351H|MAGED1_ENST00000375722.1_Missense_Mutation_p.Q351H|MAGED1_ENST00000494718.1_3'UTR	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	351	22 X 6 AA tandem repeats of W-[PQ]-X-P-X- X.|Pro-rich.				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					TAATCTGGCAGAACCCAGTGA	0.607000										Multiple Myeloma(10;0.10)			38	12					4.62619e-21	8.75348e-21	1	1	0
STX18	53407	broad.mit.edu	37	4	4459223	4459223	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr4:4459223G>C	ENST00000306200.2	-	4	420	c.357C>G	c.(355-357)caC>caG	p.H119Q	STX18_ENST00000505286.1_Missense_Mutation_p.H119Q	NM_016930.2	NP_058626.1	Q9P2W9	STX18_HUMAN	syntaxin 18	119					ER to Golgi vesicle-mediated transport|intracellular protein transport	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	SNAP receptor activity			large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.0534)		GTATCTCCTTGTGAGCTGTAA	0.373000													5	7					0	0	1	0	0
EYA4	2070	broad.mit.edu	37	6	133827254	133827254	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:133827254T>C	ENST00000367895.5	+	14	1666	c.1202T>C	c.(1201-1203)aTg>aCg	p.M401T	EYA4_ENST00000531901.1_Missense_Mutation_p.M407T|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000430974.2_Missense_Mutation_p.M353T|EYA4_ENST00000452339.2_Missense_Mutation_p.M347T|EYA4_ENST00000431403.2_Missense_Mutation_p.M401T|EYA4_ENST00000525849.1_Missense_Mutation_p.M378T|EYA4_ENST00000355286.6_Missense_Mutation_p.M378T|EYA4_ENST00000355167.3_Missense_Mutation_p.M401T|RP3-323P13.2_ENST00000451017.1_RNA	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	401					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		GATCCCCCCATGGCTGTAACC	0.333000													8	12					0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22806450	22806450	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr18:22806450G>T	ENST00000361524.3	-	4	1580	c.1432C>A	c.(1432-1434)Cag>Aag	p.Q478K	ZNF521_ENST00000538137.2_Missense_Mutation_p.Q478K|ZNF521_ENST00000584787.1_Missense_Mutation_p.Q258K	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	478					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)					AAGTTACACTGGTAGACAATG	0.458000			T	PAX5	ALL								4	20					0.00909568	0.00962192	1	1	0
LAMA1	284217	broad.mit.edu	37	18	6975018	6975018	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr18:6975018C>A	ENST00000389658.3	-	46	6600	c.6507G>T	c.(6505-6507)gtG>gtT	p.V2169V		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2169	Laminin G-like 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCCGCATCTCCACTGCAAGGA	0.537000													38	40					1.04352e-10	1.62128e-10	1	1	0
FCRL3	115352	broad.mit.edu	37	1	157670368	157670368	+	Translation_Start_Site	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:157670368G>C	ENST00000368184.3	-	0	203				FCRL3_ENST00000368186.5_De_novo_Start_OutOfFrame	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3							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)					CTGCTACTCAGATGAGACCTG	0.493000													5	13					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127712452	127712452	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:127712452G>T	ENST00000508053.1	-	20	2918	c.1944C>A	c.(1942-1944)gtC>gtA	p.V648V	FBN2_ENST00000511489.1_5'UTR|FBN2_ENST00000262464.4_Silent_p.V648V|FBN2_ENST00000508989.1_Silent_p.V615V			P35556	FBN2_HUMAN	fibrillin 2	648	EGF-like 9; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTGGAGCCAAGACAAATCCTG	0.413000													12	32					0.0809354	0.0833342	1	1	0
ANKRD17	26057	broad.mit.edu	37	4	73941948	73941948	+	Nonstop_Mutation	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr4:73941948T>A	ENST00000358602.4	-	34	7928	c.7812A>T	c.(7810-7812)tgA>tgT	p.*2604C	ANKRD17_ENST00000330838.6_Nonstop_Mutation_p.*2353C|ANKRD17_ENST00000509867.2_Nonstop_Mutation_p.*2491C	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	0					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTGATCCTCATCAGCCAAGCT	0.413000													7	9					0	0	1	0	0
GBP7	388646	broad.mit.edu	37	1	89637475	89637475	+	Silent	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:89637475G>A	ENST00000294671.2	-	2	282	c.144C>T	c.(142-144)cgC>cgT	p.R48R		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	48						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		ATTTGCCTGTGCGGTAGAGGC	0.502000													14	62					0	0	1	0	0
THAP9	79725	broad.mit.edu	37	4	83825979	83825979	+	Silent	SNP	A	A	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr4:83825979A>C	ENST00000302236.5	+	2	222	c.171A>C	c.(169-171)ccA>ccC	p.P57P		NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	57							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				TTCCAGGACCAGGTGCTATAC	0.408000													5	25					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161578	90161578	+	RNA	SNP	G	G	A	rs13337896	by1000genomes	TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr16:90161578G>A	ENST00000567960.1	+	0	314				TUBB8P7_ENST00000564451.1_RNA														p.R105H(3)									GCCAAGGGACGCTACACCGAA	0.587000													8	40					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48556445	48556445	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:48556445C>G	ENST00000435803.1	+	52	13789	c.13765C>G	c.(13765-13767)Ccc>Gcc	p.P4589A	ABCA13_ENST00000544596.1_Missense_Mutation_p.P319A	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4589					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AACCATTATGCCCCGGTTGCT	0.458000													9	44					0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3328393	3328393	+	Silent	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:3328393C>T	ENST00000378398.3	+	10	1717	c.1635C>T	c.(1633-1635)gaC>gaT	p.D545D	PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000514189.1_Silent_p.D545D|PRDM16_ENST00000511072.1_Silent_p.D545D|PRDM16_ENST00000442529.2_Silent_p.D544D|PRDM16_ENST00000441472.2_Silent_p.D544D|PRDM16_ENST00000378391.2_Silent_p.D544D|PRDM16_ENST00000270722.5_Silent_p.D544D			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	544	Pro-rich.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		ACACCCAGGACGCCAAGCTCC	0.701000			T	EVI1	"""MDS, AML"""								48	110					0	0	1	0	0
RASGRP3	25780	broad.mit.edu	37	2	33745748	33745748	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:33745748G>A	ENST00000403687.3	+	6	1105	c.365G>A	c.(364-366)aGc>aAc	p.S122N	RASGRP3_ENST00000402538.3_Missense_Mutation_p.S122N|RASGRP3_ENST00000407811.1_Missense_Mutation_p.S122N	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	122	N-terminal Ras-GEF.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					GACATATCCAGCATGTAAGAG	0.458000													6	47					0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158325877	158325877	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:158325877G>T	ENST00000444681.2	+	3	882	c.589G>T	c.(589-591)Gat>Tat	p.D197Y	CD1E_ENST00000368164.3_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.D294Y|CD1E_ENST00000368160.3_Missense_Mutation_p.D296Y|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368165.3_Missense_Mutation_p.D206Y|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000368156.1_Missense_Mutation_p.D206Y|CD1E_ENST00000368161.3_Intron|CD1E_ENST00000452291.2_Missense_Mutation_p.D107Y|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368167.3_Missense_Mutation_p.D296Y|CD1E_ENST00000368166.3_Missense_Mutation_p.D107Y|CD1E_ENST00000368154.1_Intron	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	296	Ig-like.				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					AGGGGGCCATGATCTAATCAT	0.557000													12	86					3.07112e-06	3.87684e-06	1	1	0
TULP1	7287	broad.mit.edu	37	6	35478740	35478740	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:35478740C>A	ENST00000229771.6	-	5	476	c.397G>T	c.(397-399)Gag>Tag	p.E133*	TULP1_ENST00000322263.4_Nonsense_Mutation_p.E80*	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	133					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						ttcttttcctctgcctcctct	0.572000													22	112					4.35082e-09	6.38831e-09	1	1	0
COLEC11	78989	broad.mit.edu	37	2	3660901	3660901	+	Splice_Site	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:3660901G>T	ENST00000403096.3	+	2	544	c.52_splice	c.e2-1	p.G18_splice	COLEC11_ENST00000236693.7_Splice_Site_p.G15_splice|COLEC11_ENST00000404205.1_Intron|COLEC11_ENST00000402794.1_Intron|COLEC11_ENST00000382062.2_Splice_Site_p.G44_splice|COLEC11_ENST00000349077.4_Splice_Site_p.G44_splice|COLEC11_ENST00000418971.2_Splice_Site_p.G58_splice|COLEC11_ENST00000487365.1_Intron|COLEC11_ENST00000402922.1_Splice_Site_p.G18_splice	NM_001255986.1	NP_001242915.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	44						collagen	mannose binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		TCTTCCACAGGGGATGCGGGA	0.607000													3	5					0.00024832	0.000283026	1	1	0
MAP1B	4131	broad.mit.edu	37	5	71492128	71492128	+	Silent	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:71492128T>A	ENST00000296755.7	+	5	3244	c.2946T>A	c.(2944-2946)gcT>gcA	p.A982A		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	982						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGGCGGAGGCTGATGCATACA	0.567000													15	35					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237550627	237550627	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:237550627A>G	ENST00000366574.2	+	9	940	c.623A>G	c.(622-624)cAg>cGg	p.Q208R	RYR2_ENST00000360064.6_Missense_Mutation_p.Q206R|RYR2_ENST00000542537.1_Missense_Mutation_p.Q192R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	208	MIR 2.				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)			GCCGCTTTCCAGCAGACTCTC	0.517000													13	58					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2817766	2817766	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr16:2817766G>C	ENST00000301740.8	+	11	7786	c.7237G>C	c.(7237-7239)Gcc>Ccc	p.A2413P	SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2413	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						ACCACCGTCTGCCCCAAGCCA	0.607000													21	118					0	0	1	0	0
E2F8	79733	broad.mit.edu	37	11	19256332	19256332	+	Missense_Mutation	SNP	T	T	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:19256332T>G	ENST00000527884.1	-	5	957	c.725A>C	c.(724-726)gAc>gCc	p.D242A	E2F8_ENST00000250024.4_Missense_Mutation_p.D242A|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	242					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AAAACACATGTCTGGGTGTCC	0.418000													11	20					0	0	1	0	0
RFX3	5991	broad.mit.edu	37	9	3275580	3275580	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:3275580C>A	ENST00000382004.3	-	10	1317	c.1006G>T	c.(1006-1008)Gtt>Ttt	p.V336F	RFX3_ENST00000302303.1_Missense_Mutation_p.V336F|RFX3_ENST00000358730.2_Missense_Mutation_p.V336F	NM_134428.1	NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	336					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		GAGATTTCAACTTCTCCAAAC	0.413000													4	8					0.150653	0.153301	1	1	0
PLB1	151056	broad.mit.edu	37	2	28825742	28825742	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:28825742C>T	ENST00000422425.2	+	38	2739	c.2695C>T	c.(2695-2697)Cag>Tag	p.Q899*	PLB1_ENST00000541605.1_5'UTR|PLB1_ENST00000327757.5_Nonsense_Mutation_p.Q910*	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	910	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TATCATGCGGCAGGTGTTCCT	0.607000													23	116					0	0	1	0	0
HPSE2	60495	broad.mit.edu	37	10	100995409	100995409	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:100995409T>A	ENST00000370552.3	-	1	210	c.151A>T	c.(151-153)Aga>Tga	p.R51*	HPSE2_ENST00000370549.1_Nonsense_Mutation_p.R51*|HPSE2_ENST00000370546.1_Nonsense_Mutation_p.R51*|HPSE2_ENST00000404542.1_Nonsense_Mutation_p.R51*	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2	51					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		CCTGCAGCTCTGTCTACAGGC	0.567000													26	129					0	0	1	0	0
TMEM164	84187	broad.mit.edu	37	X	109310586	109310586	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chrX:109310586G>T	ENST00000372073.1	+	3	738	c.402G>T	c.(400-402)ctG>ctT	p.L134L	TMEM164_ENST00000372068.2_Silent_p.L134L|TMEM164_ENST00000288381.4_Intron|TMEM164_ENST00000372072.3_5'UTR			Q5U3C3	TM164_HUMAN	transmembrane protein 164	134						integral to membrane				cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						TCTTTCTCCTGGCCTGCCCTC	0.383000													12	10					5.50884e-06	6.85448e-06	1	1	0
TSKS	60385	broad.mit.edu	37	19	50249941	50249941	+	Nonsense_Mutation	SNP	C	C	A	rs59626794		TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:50249941C>A	ENST00000246801.3	-	6	860	c.778G>T	c.(778-780)Gag>Tag	p.E260*	TSKS_ENST00000358830.3_Nonsense_Mutation_p.E60*	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	260							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		ttctgcttctcctccggctcc	0.716000													13	21					0.00010058	0.000117569	1	1	0
SPHKAP	80309	broad.mit.edu	37	2	228846456	228846456	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:228846456C>T	ENST00000392056.3	-	12	5126	c.5080G>A	c.(5080-5082)Gac>Aac	p.D1694N	SPHKAP_ENST00000344657.5_Missense_Mutation_p.D1665N	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1694						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AAGAGCCAGTCAAAGAGACTC	0.443000													7	19					0	0	1	0	0
TECTB	6975	broad.mit.edu	37	10	114053563	114053563	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:114053563T>A	ENST00000369422.3	+	5	551	c.551T>A	c.(550-552)cTg>cAg	p.L184Q		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	184	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		GGTTCAGATCTGTTTGCAGGA	0.403000													13	25					0	0	1	0	0
OR5H2	79310	broad.mit.edu	37	3	98001860	98001860	+	Silent	SNP	T	T	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:98001860T>C	ENST00000355273.2	+	1	129	c.129T>C	c.(127-129)acT>acC	p.T43T	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						ATCTCATCACTATTGTGTGGA	0.423000													31	103					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23894586	23894586	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr14:23894586C>T	ENST00000355349.3	-	21	2490	c.2328G>A	c.(2326-2328)atG>atA	p.M776I		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	776	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCTCGTCCCTCATTTCCTCCA	0.592000													53	58					0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7797500	7797500	+	Silent	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:7797500G>A	ENST00000303635.7	+	15	3735	c.3528G>A	c.(3526-3528)caG>caA	p.Q1176Q	CAMTA1_ENST00000439411.2_Silent_p.Q1176Q	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		AGCTGGGACAGAACCCCAGAA	0.567000			T	WWTR1	epitheliod hemangioendothelioma								45	49					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53124657	53124657	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:53124657G>A	ENST00000276480.7	-	8	751	c.68C>T	c.(67-69)tCa>tTa	p.S23L		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	23						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)				CTGGATTAGTGAATCCATTGG	0.338000													5	21					0	0	1	0	0
RXFP3	51289	broad.mit.edu	37	5	33937065	33937065	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:33937065G>T	ENST00000330120.3	+	1	575	c.220G>T	c.(220-222)Gcg>Tcg	p.A74S		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	74						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GGCAGAGAGCGCGGACACAGA	0.692000													17	135					1.5739e-10	2.43659e-10	1	1	0
LPA	4018	broad.mit.edu	37	6	160952813	160952813	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:160952813G>T	ENST00000447678.1	-	40	6191	c.6071C>A	c.(6070-6072)gCt>gAt	p.A2024D	LPA_ENST00000484276.1_Intron|LPA_ENST00000316300.5_Missense_Mutation_p.A2024D	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4532	Kringle 18.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGAAACACGAGCATAGACACC	0.458000													19	10					2.21704e-12	3.59906e-12	1	1	0
GABRB1	2560	broad.mit.edu	37	4	47163395	47163395	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr4:47163395C>G	ENST00000295454.3	+	4	662	c.370C>G	c.(370-372)Ctg>Gtg	p.L124V	GABRB1_ENST00000538619.1_Missense_Mutation_p.L54V	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	124					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			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CACCTACTTTCTGAATGACAA	0.448000													8	38					0	0	1	0	0
TMEM106A	113277	broad.mit.edu	37	17	41367825	41367825	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:41367825G>T	ENST00000331615.3	+	5	531	c.294G>T	c.(292-294)ctG>ctT	p.L98L	TMEM106A_ENST00000588659.1_Silent_p.L98L|TMEM106A_ENST00000592564.1_3'UTR|TMEM106A_ENST00000541594.1_Silent_p.L50L|TMEM106A_ENST00000536052.1_Silent_p.L98L	NM_145041.1	NP_659478.1	Q96A25	T106A_HUMAN	transmembrane protein 106A	98						integral to membrane				NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11		Breast(137;0.0164)		BRCA - Breast invasive adenocarcinoma(366;0.0917)		TTGTGTTCCTGGCCGTGCTCA	0.557000													199	364					2.10857e-94	4.40214e-94	1	1	0
SPTA1	6708	broad.mit.edu	37	1	158648313	158648313	+	Silent	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:158648313A>T	ENST00000368148.3	-	6	870	c.690T>A	c.(688-690)ccT>ccA	p.P230P	SPTA1_ENST00000368147.3_Silent_p.P230P	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	230					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGGGTAGGTCAGGATGGTTTT	0.393000													18	29					0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29056005	29056005	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr18:29056005C>A	ENST00000257189.4	+	16	2865	c.2782C>A	c.(2782-2784)Cat>Aat	p.H928N		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	928					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CCCTCTGCAGCATGGTAACTA	0.488000													25	57					5.35356e-11	8.38515e-11	1	1	0
CCDC130	81576	broad.mit.edu	37	19	13869919	13869919	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:13869919G>A	ENST00000586600.1	+	9	909	c.406G>A	c.(406-408)Gag>Aag	p.E136K	CCDC130_ENST00000221554.8_Missense_Mutation_p.E136K|CCDC130_ENST00000587019.1_3'UTR			P13994	CC130_HUMAN	coiled-coil domain containing 130	136					response to virus		protein binding			endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			TGCAGAGCATGAGAAGAAGCA	0.652000													6	27					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98562323	98562323	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:98562323A>T	ENST00000359863.4	+	47	7089	c.6880A>T	c.(6880-6882)Atg>Ttg	p.M2294L	TRRAP_ENST00000355540.3_Missense_Mutation_p.M2276L|TRRAP_ENST00000446306.3_Missense_Mutation_p.M2275L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2294	Interaction with TP53.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTCCGTCTTTATGCGCTCCCT	0.542000													40	33					0	0	1	0	0
KLK14	43847	broad.mit.edu	37	19	51585997	51585997	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:51585997A>T	ENST00000391802.1	-	2	226	c.8T>A	c.(7-9)cTg>cAg	p.L3Q	KLK14_ENST00000156499.2_Missense_Mutation_p.L3Q	NM_022046.4	NP_071329.2	Q9P0G3	KLK14_HUMAN	kallikrein-related peptidase 14	3					epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction	extracellular space	serine-type endopeptidase activity			kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)		CAAGACCCTCAGGGACATGAA	0.607000													17	17					0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96612644	96612644	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:96612644C>G	ENST00000371321.3	+	9	1528	c.1446C>G	c.(1444-1446)ttC>ttG	p.F482L	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	482					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)	TCCCGCCCTTCTATCAGCTGT	0.468000													11	43					0	0	1	0	0
GPRC5C	55890	broad.mit.edu	37	17	72436921	72436921	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:72436921A>T	ENST00000392627.1	+	2	2267	c.1141A>T	c.(1141-1143)Atg>Ttg	p.M381L	GPRC5C_ENST00000481232.1_Intron|GPRC5C_ENST00000392629.2_Missense_Mutation_p.M348L|GPRC5C_ENST00000342648.5_Missense_Mutation_p.M21L	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, family C, group 5, member C	336						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						GGGTCAGAGCATGTTCGTGGA	0.577000													8	90					0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105201670	105201670	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:105201670G>T	ENST00000369797.3	+	31	4739	c.4645G>T	c.(4645-4647)Gcc>Tcc	p.A1549S		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1549					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)		TCTGACCCCGGCCTTGCCACC	0.577000													47	45					1.48734e-19	2.74257e-19	1	1	0
RAD51AP2	729475	broad.mit.edu	37	2	17696692	17696692	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:17696692T>A	ENST00000399080.2	-	1	3014	c.2991A>T	c.(2989-2991)caA>caT	p.Q997H		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	997										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AGTAATTTTCTTGCCCATTGT	0.338000													4	8					0	0	1	0	0
ZNF770	54989	broad.mit.edu	37	15	35275470	35275470	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr15:35275470C>A	ENST00000356321.4	-	3	510	c.166G>T	c.(166-168)Gaa>Taa	p.E56*		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	56					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		ACATCACATTCAAATGGCTTT	0.358000													4	13					0.00909568	0.00962192	1	1	0
LAMA1	284217	broad.mit.edu	37	18	6943297	6943297	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr18:6943297G>T	ENST00000389658.3	-	62	9042	c.8949C>A	c.(8947-8949)aaC>aaA	p.N2983K		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2983	Laminin G-like 5.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTTTGCTTTTGTTAGCTTGAA	0.488000													9	77					5.4927e-09	8.02424e-09	1	1	0
WISP1	8840	broad.mit.edu	37	8	134237800	134237800	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:134237800G>T	ENST00000250160.6	+	4	884	c.778G>T	c.(778-780)Gat>Tat	p.D260Y	WISP1_ENST00000517423.1_Intron|WISP1_ENST00000377863.2_Missense_Mutation_p.D88Y|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000220856.6_Missense_Mutation_p.D173Y	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	260	TSP type-1.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			GCGGCCATGCGATGTGGACAT	0.562000													16	103					4.14922e-12	6.68571e-12	1	1	0
ADD2	119	broad.mit.edu	37	2	70910752	70910752	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:70910752C>A	ENST00000264436.3	-	10	1540	c.1096G>T	c.(1096-1098)Gag>Tag	p.E366*	ADD2_ENST00000355733.3_Nonsense_Mutation_p.E366*|ADD2_ENST00000407644.2_Nonsense_Mutation_p.E366*|ADD2_ENST00000413157.2_Nonsense_Mutation_p.E366*|ADD2_ENST00000430656.1_Nonsense_Mutation_p.E382*	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	366					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						ATGAGGGCCTCAAACTCATGC	0.617000													10	31					7.48243e-07	9.81645e-07	1	1	0
SLC5A1	6523	broad.mit.edu	37	22	32498078	32498078	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr22:32498078G>A	ENST00000266088.4	+	13	1769	c.1519G>A	c.(1519-1521)Gga>Aga	p.G507R	SLC5A1_ENST00000543737.1_Missense_Mutation_p.G380R	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	507					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						GTTTGCTTATGGAACCGGGAG	0.478000													9	27					0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85383659	85383659	+	Silent	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr15:85383659A>T	ENST00000258888.5	+	5	1922	c.1755A>T	c.(1753-1755)acA>acT	p.T585T		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	585					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCTCTGGCACAGATAGTACCA	0.657000													8	22					0	0	1	0	0
IRS4	8471	broad.mit.edu	37	X	107976354	107976354	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chrX:107976354A>T	ENST00000372129.2	-	1	3297	c.3221T>A	c.(3220-3222)cTg>cAg	p.L1074Q		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	1074						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TTCCTGCAGCAGCCTAGCTAC	0.517000													88	34					0	0	1	0	0
IFNA8	3445	broad.mit.edu	37	9	21409410	21409410	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:21409410G>T	ENST00000380205.1	+	1	265	c.235G>T	c.(235-237)Gtc>Ttc	p.V79F		NM_002170.3	NP_002161.2	P32881	IFNA8_HUMAN	interferon, alpha 8	79					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)		AGCCATCTCTGTCCTCCATGA	0.463000													18	51					7.05477e-17	1.25812e-16	1	1	0
TMEM132D	121256	broad.mit.edu	37	12	129822322	129822322	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:129822322C>A	ENST00000422113.2	-	4	1482	c.1156G>T	c.(1156-1158)Gag>Tag	p.E386*		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	386						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)		TCTTCCACCTCCACATCGATC	0.577000													51	223					1.07234e-20	2.01805e-20	1	1	0
CALB2	794	broad.mit.edu	37	16	71408718	71408718	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr16:71408718G>C	ENST00000302628.4	+	3	319	c.242G>C	c.(241-243)gGg>gCg	p.G81A	CALB2_ENST00000349553.5_Missense_Mutation_p.G81A	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	81	EF-hand 2.						calcium ion binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				AACTCAGATGGGAAAATCGAG	0.507000													12	5					0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120466787	120466787	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:120466787C>A	ENST00000355622.6	+	1	138	c.37C>A	c.(37-39)Cca>Aca	p.P13T	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_5'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	13					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GACTCTGATCCCAGCCATGGC	0.592000													18	29					5.01169e-05	5.95439e-05	1	1	0
BTF3	689	broad.mit.edu	37	5	72800195	72800195	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:72800195G>C	ENST00000380591.3	+	5	760	c.541G>C	c.(541-543)Gct>Cct	p.A181P	BTF3_ENST00000514505.2_3'UTR|BTF3_ENST00000335895.8_Missense_Mutation_p.A137P	NM_001037637.1	NP_001032726.1	P20290	BTF3_HUMAN	basic transcription factor 3	181					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding			endometrium(1)|large_intestine(2)|lung(2)	5		Lung NSC(167;0.00405)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;2.73e-54)		AGCACCACTTGCTACTGGAGA	0.323000													3	12					0	0	1	0	0
CAPS2	84698	broad.mit.edu	37	12	75692720	75692720	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:75692720A>T	ENST00000393284.3	-	10	843	c.242T>A	c.(241-243)cTc>cAc	p.L81H	CAPS2_ENST00000409799.1_Intron|CAPS2_ENST00000409445.3_Missense_Mutation_p.L313H|CAPS2_ENST00000442339.2_Intron|CAPS2_ENST00000409004.1_Intron			Q9BXY5	CAYP2_HUMAN	calcyphosine 2	313							calcium ion binding			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						GAACCCAATGAGCTCTCTGCA	0.313000													4	11					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133541256	133541256	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:133541256C>A	ENST00000409261.1	-	14	3501	c.3128G>T	c.(3127-3129)aGa>aTa	p.R1043I	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.R1043I	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1043							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GGGGACACCTCTCTTCGGAGA	0.572000													22	55					1.87028e-06	2.40821e-06	1	1	0
TBX4	9496	broad.mit.edu	37	17	59557321	59557321	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:59557321G>T	ENST00000393853.4	+	7	945	c.782G>T	c.(781-783)cGa>cTa	p.R261L	TBX4_ENST00000589449.1_3'UTR|TBX4_ENST00000240335.1_Missense_Mutation_p.R261L			P57082	TBX4_HUMAN	T-box 4	261					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CGTGTGGCCCGACTGCAGAGG	0.577000													59	154					5.22555e-25	1.0153e-24	1	1	0
OR2T33	391195	broad.mit.edu	37	1	248436499	248436499	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:248436499C>A	ENST00000318021.2	-	1	639	c.618G>T	c.(616-618)ctG>ctT	p.L206L		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	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)			AAAAGGGGACCAGGAGCATTA	0.542000													9	67					2.61681e-11	4.12095e-11	1	1	0
C14orf119	55017	broad.mit.edu	37	14	23564635	23564635	+	Translation_Start_Site	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr14:23564635G>A	ENST00000319074.4	+	0	662				ACIN1_ENST00000457657.1_5'UTR|ACIN1_ENST00000262710.1_5'UTR	NM_017924.3	NP_060394.1	Q9NWQ9	CN119_HUMAN	chromosome 14 open reading frame 119											central_nervous_system(1)|endometrium(1)|lung(1)	3	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00649)		CATAATCGGAGATGTTCGTTT	0.567000													13	15					0	0	1	0	0
XPOT	11260	broad.mit.edu	37	12	64833062	64833062	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:64833062G>T	ENST00000332707.5	+	23	3301	c.2772G>T	c.(2770-2772)ctG>ctT	p.L924L		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	924	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		AAGAATACCTGCCCTCCTTGC	0.378000													9	19					0.0477658	0.0492398	1	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125204392	125204392	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:125204392G>A	ENST00000431078.1	+	6	1160	c.796G>A	c.(796-798)Gac>Aac	p.D266N		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	266	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.D266Y(1)		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)		CCTCCTGGATGACCAGCACTG	0.612000													18	53					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142638462	142638462	+	Missense_Mutation	SNP	G	G	T	rs1126461		TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:142638462G>T	ENST00000355265.2	-	19	2550	c.2076C>A	c.(2074-2076)gaC>gaA	p.D692E		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	692					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GGCTGTGAGTGTCGTGAGAGT	0.612000													18	91					2.94398e-08	4.17445e-08	1	1	0
FAT4	79633	broad.mit.edu	37	4	126373392	126373392	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr4:126373392C>A	ENST00000394329.3	+	9	11234	c.11221C>A	c.(11221-11223)Ctg>Atg	p.L3741M	FAT4_ENST00000335110.5_Missense_Mutation_p.L2039M	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3741					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAGCTCACAGCTGACAGGCTT	0.438000													18	64					1.67942e-08	2.41086e-08	1	1	0
DCHS1	8642	broad.mit.edu	37	11	6661321	6661321	+	Silent	SNP	G	G	A	rs140183045	byFrequency	TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:6661321G>A	ENST00000299441.3	-	2	1935	c.1524C>T	c.(1522-1524)gtC>gtT	p.V508V		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	508	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCTATAAGTGACCTGACCAT	0.592000													7	17					0	0	1	0	0
WDHD1	11169	broad.mit.edu	37	14	55455827	55455827	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr14:55455827G>C	ENST00000360586.3	-	13	1510	c.1445C>G	c.(1444-1446)tCa>tGa	p.S482*	WDHD1_ENST00000420358.2_Nonsense_Mutation_p.S359*|WDHD1_ENST00000359167.4_Intron|WDHD1_ENST00000421192.1_Nonsense_Mutation_p.S359*	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	482						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						CAAAGTGTTTGATAAGTGTGT	0.378000													16	15					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764683	92764683	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:92764683G>A	ENST00000318238.4	-	5	1818	c.602C>T	c.(601-603)gCt>gTt	p.A201V	SAMD9L_ENST00000411955.1_Missense_Mutation_p.A201V|SAMD9L_ENST00000437805.1_Missense_Mutation_p.A201V	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	201										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GTTTGTGAGAGCTTTGAACTC	0.403000													22	20					0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4968295	4968295	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:4968295G>T	ENST00000380373.2	-	1	61	c.36C>A	c.(34-36)acC>acA	p.T12T	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGAAGAAGGTGGTGATTTCAA	0.398000													5	14					8.12818e-05	9.53963e-05	1	1	0
UHRF1	29128	broad.mit.edu	37	19	4954742	4954742	+	RNA	SNP	A	A	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:4954742A>G	ENST00000592666.1	+	0	2614							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		ACGGCCCAGCAGAGCAGCCTC	0.672000													21	50					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38862639	38862639	+	Splice_Site	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:38862639A>T	ENST00000359357.3	+	57	8349	c.8096_splice	c.e57+1	p.R2699_splice	DNAH8_ENST00000441566.1_Splice_Site_p.R2663_splice|DNAH8_ENST00000449981.2_Splice_Site_p.R2916_splice					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						AATTGCAGACAGGTGCGTGTT	0.393000													3	18					0	0	1	0	0
C9	735	broad.mit.edu	37	5	39311263	39311263	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:39311263C>A	ENST00000263408.4	-	7	1182	c.1087G>T	c.(1087-1089)Gat>Tat	p.D363Y		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	363	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			GAAGCTTTATCCAAAACATAT	0.373000													16	29					3.45872e-05	4.1634e-05	1	1	0
GPR78	27201	broad.mit.edu	37	4	8588917	8588917	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr4:8588917G>A	ENST00000382487.4	+	3	1336	c.919G>A	c.(919-921)Ggc>Agc	p.G307S	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	307					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						AGTCCTGGCCGGCATGGTGCA	0.652000													17	88					0	0	1	0	0
HPX	3263	broad.mit.edu	37	11	6453208	6453208	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:6453208C>A	ENST00000265983.3	-	8	975	c.875G>T	c.(874-876)tGg>tTg	p.W292L		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	292	Hemopexin-like 4.				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		CCAGCTATGCCAGCCATCCCG	0.572000													38	110					6.05902e-23	1.16037e-22	1	1	0
PARVB	29780	broad.mit.edu	37	22	44527488	44527488	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr22:44527488G>T	ENST00000338758.6	+	5	561	c.498G>T	c.(496-498)gcG>gcT	p.A166A	PARVB_ENST00000406477.3_Silent_p.A199A|PARVB_ENST00000404989.1_Silent_p.A129A	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	166	CH 1.				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding			NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				GAGGCTGGGCGCTCCGGTGGA	0.602000													12	25					5.50884e-06	6.85448e-06	1	1	0
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:58385762C>G	ENST00000435989.2	-	3	1230	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	332					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.S332S(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358000													4	4					0	0	1	0	0
RHAG	6005	broad.mit.edu	37	6	49587020	49587020	+	Silent	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:49587020G>A	ENST00000371175.4	-	2	239	c.213C>T	c.(211-213)ttC>ttT	p.F71F	RHAG_ENST00000229810.7_Silent_p.F71F	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	71					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					ATTTCTTCAGGAAGGTCATGA	0.448000													12	20					0	0	1	0	0
SPPL2A	84888	broad.mit.edu	37	15	51041053	51041053	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr15:51041053C>G	ENST00000261854.5	-	3	466	c.192G>C	c.(190-192)ttG>ttC	p.L64F	RP11-507J18.2_ENST00000558317.1_RNA	NM_032802.3	NP_116191.2	Q8TCT8	PSL2_HUMAN	signal peptide peptidase like 2A	64	PA.					integral to membrane	aspartic-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		TCAGATTCATCAAACTAATGG	0.358000													13	27					0	0	1	0	0
OXR1	55074	broad.mit.edu	37	8	107726141	107726141	+	Silent	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:107726141A>T	ENST00000445937.1	+	11	2145	c.1884A>T	c.(1882-1884)atA>atT	p.I628I	OXR1_ENST00000452423.2_Silent_p.I118I|OXR1_ENST00000531443.1_Silent_p.I628I|OXR1_ENST00000312046.6_Silent_p.I621I|OXR1_ENST00000517566.2_Silent_p.I628I|OXR1_ENST00000442977.2_Silent_p.I629I	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	629					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			CTGGATTTATAGTAGTAAAAA	0.383000													5	46					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	132002784	132002784	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:132002784A>T	ENST00000286355.5	-	2	3057	c.965T>A	c.(964-966)gTg>gAg	p.V322E	ADCY8_ENST00000377928.3_Missense_Mutation_p.V322E	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	322					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			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)			TGCCTGGGCCACAACCTAAAA	0.433000										HNSCC(32;0.087)			34	207					0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212809	26212809	+	Silent	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chrX:26212809G>C	ENST00000379034.1	+	2	995	c.846G>C	c.(844-846)ctG>ctC	p.L282L		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	282	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						ATAATGCGCTGCCGAAGTCGG	0.542000													61	40					0	0	1	0	0
CCT6B	10693	broad.mit.edu	37	17	33266230	33266230	+	Silent	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:33266230A>T	ENST00000314144.5	-	10	1300	c.1185T>A	c.(1183-1185)ctT>ctA	p.L395L	CCT6B_ENST00000421975.3_Silent_p.L358L|CCT6B_ENST00000436961.3_Silent_p.L350L	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	395					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				TGATAGCACGAAGTCCATCTC	0.363000													20	59					0	0	1	0	0
CACNG7	59284	broad.mit.edu	37	19	54416111	54416111	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:54416111T>C	ENST00000391767.1	+	2	238	c.26T>C	c.(25-27)cTg>cCg	p.L9P	CACNG7_ENST00000222212.2_Missense_Mutation_p.L9P|CACNG7_ENST00000468076.1_Intron|CACNG7_ENST00000391766.1_Missense_Mutation_p.L9P			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	9					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		AGCCGCGCCCTGACCCTGCTG	0.632000													12	49					0	0	1	0	0
TRAV8-2	28684	broad.mit.edu	37	14	22315380	22315380	+	RNA	SNP	T	T	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr14:22315380T>C	ENST00000390434.3	+	0	543																											GCGACGCGGCTGAGTACTTCT	0.502000													15	64					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814141	106814141	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:106814141G>T	ENST00000407775.2	+	8	2081	c.1831G>T	c.(1831-1833)Gct>Tct	p.A611S	ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.A342S|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.A479S|ZFPM2_ENST00000517361.1_Missense_Mutation_p.A479S	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	611					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CAACCCAGCTGCTCATTCTGC	0.463000													12	119					2.80697e-09	4.13196e-09	1	1	0
GRID2	2895	broad.mit.edu	37	4	94693307	94693307	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr4:94693307G>C	ENST00000282020.4	+	16	2940	c.2682G>C	c.(2680-2682)caG>caC	p.Q894H	GRID2_ENST00000510992.1_Missense_Mutation_p.Q799H	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	894					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)	CCCATAAACAGTTTTCCACCT	0.443000													14	64					0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69948775	69948775	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:69948775G>T	ENST00000358913.5	+	13	3305	c.2817G>T	c.(2815-2817)acG>acT	p.T939T	MYPN_ENST00000540630.1_Silent_p.T939T|MYPN_ENST00000354393.2_Silent_p.T664T	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	939						nucleus|sarcomere	actin binding	p.T939T(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AGATCCCCACGGGCAAGTGTA	0.453000													15	15					2.31682e-05	2.79855e-05	1	1	0
RPLP2	6181	broad.mit.edu	37	11	810350	810350	+	Missense_Mutation	SNP	T	T	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:810350T>G	ENST00000321153.4	+	2	510	c.116T>G	c.(115-117)cTc>cGc	p.L39R	RPLP2_ENST00000530797.1_Missense_Mutation_p.L39R|RPLP2_ENST00000532004.1_Intron	NM_001004.3	NP_000995.1	P05387	RLA2_HUMAN	ribosomal protein, large, P2	39					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			lung(1)	1		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GACGACCGGCTCAACAAGGTA	0.652000													5	13					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55494874	55494874	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:55494874A>T	ENST00000543010.1	+	6	1951	c.1808A>T	c.(1807-1809)cAg>cTg	p.Q603L	NLRP2_ENST00000263437.6_Missense_Mutation_p.Q600L|NLRP2_ENST00000538819.1_Missense_Mutation_p.Q579L|NLRP2_ENST00000537859.1_Missense_Mutation_p.Q581L|NLRP2_ENST00000448584.2_Missense_Mutation_p.Q603L|NLRP2_ENST00000427260.2_Missense_Mutation_p.Q580L|NLRP2_ENST00000391721.4_Missense_Mutation_p.Q579L|NLRP2_ENST00000339757.7_Missense_Mutation_p.Q581L	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	603					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)		ACAGACCTGCAGGAGCTCCTC	0.522000													30	27					0	0	1	0	0
LMAN2L	81562	broad.mit.edu	37	2	97405648	97405648	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:97405648C>T	ENST00000264963.4	-	1	152	c.130G>A	c.(130-132)Gcg>Acg	p.A44T	LMAN2L_ENST00000377079.4_Missense_Mutation_p.A44T|LMAN2L_ENST00000537039.1_5'UTR|LMAN2L_ENST00000534882.1_5'UTR|LMAN2L_ENST00000426463.2_5'UTR	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	44					ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						GTTTGACCCGCCCCGACTTGC	0.627000													38	92					0	0	1	0	0
MICB	4277	broad.mit.edu	37	6	31474060	31474060	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:31474060T>C	ENST00000252229.6	+	3	545	c.466T>C	c.(466-468)Tcc>Ccc	p.S156P	MICB_ENST00000399150.3_Missense_Mutation_p.S113P|MICB_ENST00000538442.1_Missense_Mutation_p.S124P	NM_005931.3	NP_005922.2	Q29980	MICB_HUMAN	MHC class I polypeptide-related sequence B	156					antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						GCCCCAGTCCTCCAGAGCTCA	0.537000													17	66					0	0	1	0	0
OR1L1	26737	broad.mit.edu	37	9	125424722	125424722	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:125424722C>G	ENST00000373686.1	+	1	878	c.878C>G	c.(877-879)tCt>tGt	p.S293C				Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						ACCTGTGGCTCTCATCTCACA	0.408000													11	48					0	0	1	0	0
C8orf33	65265	broad.mit.edu	37	8	146278072	146278072	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:146278072G>T	ENST00000331434.6	+	2	221	c.107G>T	c.(106-108)cGg>cTg	p.R36L		NM_023080.2	NP_075568.1	Q9H7E9	CH033_HUMAN	chromosome 8 open reading frame 33	36										endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)		TCCAGCGCCCGGAATCCTTCC	0.682000													80	35					4.12397e-46	8.46731e-46	1	1	0
GAS2L1P2	340508	broad.mit.edu	37	9	99838917	99838917	+	RNA	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:99838917G>T	ENST00000442849.2	-	0	1297					NR_002942.1																						TCCCGGCATTGGCCAGAAACT	0.617000													5	3					0.000602214	0.000671403	1	1	0
C2orf16	84226	broad.mit.edu	37	2	27799503	27799503	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:27799503C>A	ENST00000408964.2	+	1	115	c.64C>A	c.(64-66)Caa>Aaa	p.Q22K		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	22										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TTCAGGATGGCAAGATGTGAA	0.433000													6	17					0.0215528	0.0224443	1	1	0
PPP4R4	57718	broad.mit.edu	37	14	94718218	94718218	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr14:94718218C>A	ENST00000304338.3	+	16	2004	c.1850C>A	c.(1849-1851)cCa>cAa	p.P617Q		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	617						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						ACACATGATCCAGTAGCAAAT	0.284000													12	14					0.000978159	0.00108497	1	1	0
MYO18A	399687	broad.mit.edu	37	17	27493467	27493467	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:27493467C>A	ENST00000527372.1	-	2	672	c.492G>T	c.(490-492)tcG>tcT	p.S164S	MYO18A_ENST00000531253.1_Silent_p.S164S|MYO18A_ENST00000533112.1_Silent_p.S164S|MYO18A_ENST00000354329.4_Silent_p.S164S	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	164					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CCACCTGTGGCGAGGGGGCGG	0.627000													31	39					3.99451e-17	7.15305e-17	1	1	0
DNAH9	1770	broad.mit.edu	37	17	11672503	11672503	+	Missense_Mutation	SNP	G	G	T	rs140586111	by1000genomes	TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:11672503G>T	ENST00000262442.3	+	38	7477	c.7409G>T	c.(7408-7410)cGg>cTg	p.R2470L	DNAH9_ENST00000454412.2_Missense_Mutation_p.R2470L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2470	AAA 3 (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)		TTGATGGCGCGGCAGCGGCCT	0.617000													44	36					2.64894e-19	4.86386e-19	1	1	0
CTSF	8722	broad.mit.edu	37	11	66335531	66335531	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:66335531G>C	ENST00000310325.5	-	2	345	c.236C>G	c.(235-237)tCc>tGc	p.S79C		NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	79					proteolysis	lysosome	cysteine-type endopeptidase activity			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GGCCTCCAGGGAGTACAGCGA	0.682000													10	19					0	0	1	0	0
ZIC4	84107	broad.mit.edu	37	3	147114095	147114095	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:147114095A>T	ENST00000383075.3	-	3	744	c.232T>A	c.(232-234)Ttc>Atc	p.F78I	ZIC4_ENST00000425731.3_Missense_Mutation_p.F116I|ZIC4_ENST00000484399.1_Missense_Mutation_p.F78I|ZIC4_ENST00000525172.2_Missense_Mutation_p.F128I|ZIC4_ENST00000473123.1_Missense_Mutation_p.F78I|ZIC4_ENST00000491672.1_Intron	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	78						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						CCTGGCGGGAAGGGCTCCGGC	0.721000													20	23					0	0	1	0	0
TTC39A	22996	broad.mit.edu	37	1	51778492	51778492	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:51778492C>A	ENST00000262676.5	-	3	421	c.261G>T	c.(259-261)ctG>ctT	p.L87L	TTC39A_ENST00000447632.2_Silent_p.L91L|TTC39A_ENST00000451380.1_Silent_p.L90L|TTC39A_ENST00000262675.7_Silent_p.L63L|TTC39A_ENST00000413473.2_Silent_p.L94L|TTC39A_ENST00000371747.3_Silent_p.L90L|TTC39A_ENST00000371750.5_Silent_p.L91L			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	91							binding	p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						ACCTCTGACACAGCATCTGTG	0.582000													103	144					3.82633e-55	7.90289e-55	1	1	0
WNT2	7472	broad.mit.edu	37	7	116937830	116937830	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:116937830G>T	ENST00000265441.3	-	4	988	c.689C>A	c.(688-690)aCg>aAg	p.T230K		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	230					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		ATAATCGCCCGTTTTCCTGAA	0.537000													25	126					1.64293e-13	2.7493e-13	1	1	0
BOD1L1	259282	broad.mit.edu	37	4	13606633	13606633	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr4:13606633C>G	ENST00000040738.5	-	10	2026	c.1891G>C	c.(1891-1893)Gcc>Ccc	p.A631P		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	631	Lys-rich.						DNA binding										AGTCTCCGGGCAGGTTTACTT	0.353000													9	18					0	0	1	0	0
HTR1A	3350	broad.mit.edu	37	5	63256992	63256992	+	Silent	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:63256992G>A	ENST00000323865.3	-	1	788	c.555C>T	c.(553-555)gaC>gaT	p.D185D	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	185					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TGGTGCATGCGTCGGGGTCCG	0.577000													37	187					0	0	1	0	0
APOBR	55911	broad.mit.edu	37	16	28509318	28509318	+	Splice_Site	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr16:28509318G>T	ENST00000564831.1	+	2	2988		c.e2+1		APOBR_ENST00000431282.1_Splice_Site|APOBR_ENST00000328423.5_Splice_Site	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor						cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						CTGGAGCGAGGTGAGGGCTCT	0.697000													24	34					3.5997e-14	6.09423e-14	1	1	0
HELZ2	85441	broad.mit.edu	37	20	62196855	62196855	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr20:62196855G>A	ENST00000467148.1	-	8	3389	c.3320C>T	c.(3319-3321)gCc>gTc	p.A1107V	HELZ2_ENST00000427522.2_Missense_Mutation_p.A538V	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		GTACAGCCGGGCCTGCTGCAG	0.672000													5	32					0	0	1	0	0
MAML2	84441	broad.mit.edu	37	11	95826241	95826241	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:95826241C>A	ENST00000524717.1	-	2	2238	c.954G>T	c.(952-954)gtG>gtT	p.V318V		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	318					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TCATGGGAGGCACAGATATGT	0.458000			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid								7	30					8.12818e-05	9.53963e-05	1	1	0
TRNT1	51095	broad.mit.edu	37	3	3189249	3189249	+	Silent	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:3189249C>T	ENST00000251607.6	+	7	1020	c.918C>T	c.(916-918)gtC>gtT	p.V306V	TRNT1_ENST00000280591.6_Silent_p.V286V	NM_182916.2	NP_886552.2	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1	306					protein targeting to mitochondrion|tRNA 3'-end processing	mitochondrion	ATP binding|tRNA adenylyltransferase activity|tRNA binding			breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		AAGATGATGTCACAAAATTGG	0.318000													7	17					0	0	1	0	0
GTF2F1	2962	broad.mit.edu	37	19	6387450	6387450	+	Silent	SNP	C	C	A	rs143919566	by1000genomes	TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:6387450C>A	ENST00000394456.5	-	5	911	c.447G>T	c.(445-447)ctG>ctT	p.L149L	CTB-180A7.6_ENST00000599584.1_RNA|GTF2F1_ENST00000429701.2_Intron	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	149					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						GATGCCGGGCCAGCGGTGTGA	0.632000													16	66					0.000308642	0.000348577	1	1	0
RNF213	57674	broad.mit.edu	37	17	78327429	78327429	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:78327429A>G	ENST00000582970.1	+	34	10684	c.10541A>G	c.(10540-10542)aAg>aGg	p.K3514R	RNF213_ENST00000508628.2_Missense_Mutation_p.K3563R|RNF213_ENST00000336301.6_Missense_Mutation_p.K1587R|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGTTCTGAGAAGGTGGGAAAG	0.562000													34	53					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22941658	22941658	+	Silent	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:22941658G>A	ENST00000397104.3	-	5	779	c.780C>T	c.(778-780)agC>agT	p.S260S	ZNF99_ENST00000596209.1_Silent_p.S351S					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)				TTGAGGACTGGCTAAAAGCTT	0.378000													6	16					0	0	1	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140744136	140744136	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:140744136G>C	ENST00000518069.1	+	1	239	c.239G>C	c.(238-240)cGa>cCa	p.R80P	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGAACCCGCGAAGCGGCAGC	0.602000													35	68					0	0	1	0	0
WRN	7486	broad.mit.edu	37	8	31014888	31014888	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:31014888G>C	ENST00000298139.5	+	33	4073	c.3824G>C	c.(3823-3825)aGc>aCc	p.S1275T		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	1275					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTCTAGAAGAGCATAGCTGAG	0.468000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				3	16					0	0	1	0	0
LCE1F	353137	broad.mit.edu	37	1	152749117	152749117	+	Silent	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:152749117C>G	ENST00000334371.2	+	1	270	c.270C>G	c.(268-270)ccC>ccG	p.P90P		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	90					keratinization					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCACAGACCCCAGAGCTCTG	0.697000													40	111					0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1094094	1094094	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:1094094C>A	ENST00000308624.5	+	4	452	c.323C>A	c.(322-324)gCa>gAa	p.A108E	SNTG2_ENST00000407292.1_Intron	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	108	PDZ.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GAAGACCAAGCAGGTAAAAAC	0.388000													6	14					3.59834e-05	4.2987e-05	1	1	0
SLCO1B1	10599	broad.mit.edu	37	12	21331658	21331658	+	Splice_Site	SNP	T	T	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:21331658T>G	ENST00000256958.2	+	6	724		c.e6+2			NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1						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)	TGTATTTAGGTAATGTACACA	0.313000													9	15					0	0	1	0	0
NRROS	375387	broad.mit.edu	37	3	196387081	196387081	+	Silent	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:196387081G>A	ENST00000328557.4	+	3	770	c.567G>A	c.(565-567)caG>caA	p.Q189Q		NM_198565.1	NP_940967.1			negative regulator of reactive oxygen species																		TGGATCTGCAGAGGAACTACA	0.637000													38	56					0	0	1	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37535621	37535621	+	Splice_Site	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr20:37535621G>C	ENST00000299824.1	+	8	1011		c.e8-1		PPP1R16B_ENST00000373331.2_Splice_Site	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B						regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CTGTGTTTCAGATGCAGATGG	0.522000													5	38					0	0	1	0	0
BATF2	116071	broad.mit.edu	37	11	64756840	64756840	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:64756840G>T	ENST00000301887.4	-	3	716	c.586C>A	c.(586-588)Cag>Aag	p.Q196K	BATF2_ENST00000527716.1_Missense_Mutation_p.Q172K|BATF2_ENST00000435842.2_Missense_Mutation_p.Q111K	NM_138456.3	NP_612465.3	Q8N1L9	BATF2_HUMAN	basic leucine zipper transcription factor, ATF-like 2	196						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|skin(1)	9						AGGCTGGGCTGGAGGGCACTG	0.647000													17	34					5.35267e-07	7.10824e-07	1	1	0
RHAG	6005	broad.mit.edu	37	6	49585905	49585905	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:49585905G>C	ENST00000371175.4	-	3	394	c.368C>G	c.(367-369)gCc>gGc	p.A123G	RHAG_ENST00000229810.7_Missense_Mutation_p.A123G	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	123					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					CAGAACTGTGGCTGCACTGAA	0.408000													3	11					0	0	1	0	0
CTAGE5	4253	broad.mit.edu	37	14	39790161	39790161	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr14:39790161G>T	ENST00000553728.1	+	23	3391	c.3178G>T	c.(3178-3180)Ggt>Tgt	p.G1060C	RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.G496C|CTAGE5_ENST00000396165.4_Missense_Mutation_p.G496C|CTAGE5_ENST00000341749.3_Missense_Mutation_p.G513C|CTAGE5_ENST00000553352.1_Missense_Mutation_p.G496C|CTAGE5_ENST00000396158.2_Missense_Mutation_p.G530C|CTAGE5_ENST00000557038.1_Missense_Mutation_p.G445C|CTAGE5_ENST00000556148.1_Missense_Mutation_p.G450C|CTAGE5_ENST00000341502.5_Missense_Mutation_p.G525C|CTAGE5_ENST00000280083.3_Missense_Mutation_p.G525C|CTAGE5_ENST00000348007.3_Intron																							CTCACCATTGGGTTGGCCTTC	0.443000													8	25					1.12685e-05	1.38035e-05	1	1	0
ZFPM2	23414	broad.mit.edu	37	8	106801079	106801079	+	Silent	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:106801079C>G	ENST00000407775.2	+	6	916	c.666C>G	c.(664-666)cgC>cgG	p.R222R	ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000378472.4_5'UTR|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000520492.1_Silent_p.R90R|ZFPM2_ENST00000517361.1_Silent_p.R90R	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	222					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ACCCTGCACGCCTGCTGGACT	0.502000													5	68					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152192514	152192514	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:152192514T>A	ENST00000368801.2	-	3	1666	c.1591A>T	c.(1591-1593)Agc>Tgc	p.S531C	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	531					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)			CCATGTCGGCTGTGTCCCAAA	0.567000													474	327					0	0	1	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47601944	47601944	+	Splice_Site	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr20:47601944G>T	ENST00000371917.4	+	16	2070		c.e16-1			NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)						exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GTATGTTTCAGACCCAAGTAG	0.453000													7	30					0.0293803	0.0304134	1	1	0
KRTAP13-3	337960	broad.mit.edu	37	21	31797818	31797818	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr21:31797818G>T	ENST00000390690.2	-	1	468	c.413C>A	c.(412-414)cCt>cAt	p.P138H		NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	138						intermediate filament				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						ACTCTGGGAAGGGGAGGTATG	0.463000													19	25					1.67942e-08	2.41086e-08	1	1	0
WNT5B	81029	broad.mit.edu	37	12	1749000	1749000	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:1749000G>T	ENST00000397196.2	+	4	711	c.479G>T	c.(478-480)gGc>gTc	p.G160V	WNT5B_ENST00000542408.1_Intron|WNT5B_ENST00000310594.3_Missense_Mutation_p.G160V|WNT5B_ENST00000537031.1_Missense_Mutation_p.G160V	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	160					angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			CTGTGGGGCGGCTGTGGGGAC	0.682000													5	32					3.59834e-05	4.2987e-05	1	1	0
PSG6	5675	broad.mit.edu	37	19	43414766	43414766	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:43414766G>T	ENST00000187910.2	-	3	737	c.672C>A	c.(670-672)gcC>gcA	p.A224A	PSG6_ENST00000402603.4_Silent_p.A224A|PSG6_ENST00000292125.2_Silent_p.A224A	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				CACTGCGGCTGGCACTCACTG	0.522000													73	70					6.07461e-23	1.16207e-22	1	1	0
LPPR3	79948	broad.mit.edu	37	19	815828	815828	+	Silent	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:815828G>A	ENST00000359894.2	-	3	162	c.99C>T	c.(97-99)atC>atT	p.I33I	LPPR3_ENST00000520876.3_Silent_p.I33I	NM_024888.2	NP_079164.1	Q6T4P5	LPPR3_HUMAN		33						integral to membrane	phosphatidate phosphatase activity										ACAAGGATACGATGGAAGAAG	0.602000													21	24					0	0	1	0	0
ACMSD	130013	broad.mit.edu	37	2	135596280	135596280	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:135596280C>G	ENST00000356140.5	+	1	164	c.28C>G	c.(28-30)Cta>Gta	p.L10V	ACMSD_ENST00000283054.4_5'UTR|ACMSD_ENST00000392928.1_5'UTR|AC016725.4_ENST00000392929.2_RNA	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	10					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)		TAGTCATATTCTACCAAAAGA	0.358000													10	3					0	0	1	0	0
ABL2	27	broad.mit.edu	37	1	179077435	179077435	+	Silent	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:179077435C>G	ENST00000502732.1	-	12	3170	c.2967G>C	c.(2965-2967)gtG>gtC	p.V989V	ABL2_ENST00000504405.1_Silent_p.V850V|ABL2_ENST00000408940.3_Silent_p.V953V|ABL2_ENST00000512653.1_Silent_p.V974V|ABL2_ENST00000507173.1_Silent_p.V865V|ABL2_ENST00000511413.1_Silent_p.V886V|ABL2_ENST00000344730.3_Silent_p.V871V|ABL2_ENST00000367623.4_Silent_p.V968V	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	989	Pro-rich.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	GTAGTCTCATCACTGGTGGTG	0.527000			T	ETV6	AML								25	158					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2158299	2158299	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr16:2158299T>A	ENST00000262304.4	-	15	7077	c.6869A>T	c.(6868-6870)gAc>gTc	p.D2290V	PKD1_ENST00000423118.1_Missense_Mutation_p.D2290V	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2290	REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CGGCGTCTGGTCGCCGTCCTC	0.647000													20	68					0	0	1	0	0
HAO2	51179	broad.mit.edu	37	1	119925620	119925620	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:119925620C>T	ENST00000361035.4	+	4	536	c.253C>T	c.(253-255)Cct>Tct	p.P85S	HAO2_ENST00000325945.3_Missense_Mutation_p.P72S	NM_001005783.1	NP_001005783.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	72	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity	p.P72T(1)|p.P72S(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		GATCAGTGCCCCTATTTGTAT	0.557000													12	28					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15639299	15639299	+	Splice_Site	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:15639299C>A	ENST00000378076.3	-	21	2472		c.e21-1		ITGA8_ENST00000477064.1_Splice_Site	NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8						cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GTCGAAATCCCTACAATTGCA	0.502000													15	14					0.0202918	0.021233	1	1	0
CHRM3	1131	broad.mit.edu	37	1	240071330	240071330	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:240071330G>T	ENST00000255380.4	+	5	1358	c.579G>T	c.(577-579)tgG>tgT	p.W193C		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	193					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)	GTCTGGCTTGGGTCATCTCCT	0.507000													17	159					2.23348e-06	2.84843e-06	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141115583	141115583	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:141115583C>T	ENST00000389484.3	-	74	12331	c.11360G>A	c.(11359-11361)tGc>tAc	p.C3787Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3787	LDL-receptor class A 32.				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)		ACCATCTCCGCAGTCATCAAG	0.418000										TSP Lung(27;0.18)			4	25					0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5071277	5071277	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:5071277G>T	ENST00000574788.1	+	34	5317	c.3087G>T	c.(3085-3087)gaG>gaT	p.E1029D	USP6_ENST00000250066.6_Missense_Mutation_p.E1029D|USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Missense_Mutation_p.E712D			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	1029					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CGCAAGCCGAGCCCATCAACC	0.522000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								34	33					6.19805e-25	1.20291e-24	1	1	0
GABRA3	2556	broad.mit.edu	37	X	151424464	151424464	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chrX:151424464T>A	ENST00000370314.4	-	5	575	c.337A>T	c.(337-339)Act>Tct	p.T113S	GABRA3_ENST00000535043.1_Missense_Mutation_p.T113S|GABRA3_ENST00000370311.1_Missense_Mutation_p.T113S	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	113					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)	ACATCAATAGTGTACTCCTAG	0.403000													15	11					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238244986	238244986	+	Silent	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:238244986A>T	ENST00000295550.4	-	40	9209	c.8757T>A	c.(8755-8757)gcT>gcA	p.A2919A	COL6A3_ENST00000347401.3_Silent_p.A2718A|COL6A3_ENST00000346358.4_Silent_p.A2719A|COL6A3_ENST00000409809.1_Silent_p.A2713A|COL6A3_ENST00000353578.4_Silent_p.A2713A|COL6A3_ENST00000472056.1_Silent_p.A2312A	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2919	Ala-rich.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CAGGCTTGGCAGCCACAGGTT	0.562000													47	177					0	0	1	0	0
ELAVL2	1993	broad.mit.edu	37	9	23692605	23692605	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:23692605C>G	ENST00000397312.2	-	7	1304	c.1030G>C	c.(1030-1032)Gac>Cac	p.D344H	ELAVL2_ENST00000380110.4_Missense_Mutation_p.D374H|ELAVL2_ENST00000380117.1_Missense_Mutation_p.D344H|ELAVL2_ENST00000544538.1_Missense_Mutation_p.D344H|ELAVL2_ENST00000223951.6_Missense_Mutation_p.D331H	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	344	RRM 3.				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)		AGTACTCTGTCTCCCAGACGG	0.413000													8	15					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84694096	84694096	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr15:84694096G>T	ENST00000286744.5	+	27	4788	c.4564G>T	c.(4564-4566)Gtg>Ttg	p.V1522L	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.V1522L	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1522	TSP type-1 9.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGTGCAGGTGGTGTCTCCAAG	0.537000													10	22					7.48243e-07	9.81645e-07	1	1	0
KCNAB1	7881	broad.mit.edu	37	3	155861005	155861005	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:155861005G>T	ENST00000471742.1	+	1	255	c.38G>T	c.(37-39)aGc>aTc	p.S13I	KCNAB1_ENST00000389636.5_Intron|KCNAB1_ENST00000490337.1_Intron	NM_003471.3	NP_003462.2	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	304						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GACATCCCGAGCCCCAAGCTG	0.493000													29	39					1.5548e-18	2.83984e-18	1	1	0
NKD2	85409	broad.mit.edu	37	5	1034942	1034942	+	Silent	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:1034942C>T	ENST00000296849.5	+	7	727	c.498C>T	c.(496-498)agC>agT	p.S166S	NKD2_ENST00000274150.4_Silent_p.S166S|NKD2_ENST00000537972.1_Silent_p.S166S	NM_033120.2	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	166	Interaction with DVL1, DVL2 and DVL3 (By similarity).|Targeting to the basolateral cell membrane.				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			CGGGCAGCAGCAAGACCCTCC	0.617000													45	31					0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	34004193	34004193	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:34004193C>A	ENST00000374181.3	-	8	1863	c.1694G>T	c.(1693-1695)cGg>cTg	p.R565L	GRM4_ENST00000535756.1_Missense_Mutation_p.R432L|GRM4_ENST00000538487.1_Missense_Mutation_p.R565L|GRM4_ENST00000455714.2_Missense_Mutation_p.R425L|GRM4_ENST00000374177.3_Missense_Mutation_p.R449L|GRM4_ENST00000544773.1_Missense_Mutation_p.R396L|GRM4_ENST00000545715.1_Missense_Mutation_p.R257L	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	565					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	CTCTGTGGGCCGCATGTCATA	0.647000													12	55					3.07112e-06	3.87684e-06	1	1	0
TTN	7273	broad.mit.edu	37	2	179665160	179665160	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:179665160A>T	ENST00000589042.1	-	4	769	c.545T>A	c.(544-546)gTt>gAt	p.V182D	TTN_ENST00000360870.5_Missense_Mutation_p.V182D|TTN_ENST00000342992.6_Missense_Mutation_p.V182D|TTN_ENST00000591111.1_Missense_Mutation_p.V182D|TTN_ENST00000342175.6_Missense_Mutation_p.V182D|TTN_ENST00000359218.5_Missense_Mutation_p.V182D|TTN_ENST00000460472.2_Missense_Mutation_p.V182D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	182	Ig-like 2.						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)			AGCTCTTCCAACGCTATTGGT	0.478000													20	81					0	0	1	0	0
SULT2A1	6822	broad.mit.edu	37	19	48377975	48377975	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:48377975C>A	ENST00000222002.3	-	5	823	c.684G>T	c.(682-684)atG>atT	p.M228I		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	228					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		AATAATTGGACATCTTGTTTT	0.378000													20	27					4.96729e-08	6.91361e-08	1	1	0
TTN	7273	broad.mit.edu	37	2	179454969	179454969	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:179454969G>T	ENST00000589042.1	-	304	61707	c.61483C>A	c.(61483-61485)Cgc>Agc	p.R20495S	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R17927S|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R18854S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R11622S|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R11555S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R11430S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18854	Fibronectin type-III 48.						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)			GCTAGAATGCGGATAGTTTGG	0.438000													20	40					4.96729e-08	6.91361e-08	1	1	0
IGDCC4	57722	broad.mit.edu	37	15	65680855	65680855	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr15:65680855C>A	ENST00000352385.2	-	16	2986	c.2777G>T	c.(2776-2778)cGc>cTc	p.R926L		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	926	Fibronectin type-III 5.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						CACCTCTGTGCGCGCCCCCAT	0.617000													42	107					6.5261e-18	1.18205e-17	1	1	0
TPH2	121278	broad.mit.edu	37	12	72425467	72425467	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:72425467G>T	ENST00000333850.3	+	11	1606	c.1465G>T	c.(1465-1467)Ggg>Tgg	p.G489W		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	489					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	CCAATATCTGGGGATTTGATG	0.408000													8	39					0.00448238	0.00481205	1	1	0
NFIB	4781	broad.mit.edu	37	9	14307370	14307370	+	Silent	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:14307370C>T	ENST00000380959.3	-	2	653	c.180G>A	c.(178-180)gaG>gaA	p.E60E	NFIB_ENST00000380934.4_Silent_p.E86E|NFIB_ENST00000380921.3_Silent_p.E60E|NFIB_ENST00000397579.2_Silent_p.E60E|NFIB_ENST00000380953.1_Silent_p.E60E|NFIB_ENST00000397575.3_Silent_p.E60E|NFIB_ENST00000397581.2_Silent_p.E60E	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	60					anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		CACTGAGAAGCTCATCTTTGA	0.453000			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""								25	44					0	0	1	0	0
PRB4	5545	broad.mit.edu	37	12	11461660	11461660	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:11461660C>A	ENST00000279575.1	-	3	290	c.257G>T	c.(256-258)gGc>gTc	p.G86V	PRB4_ENST00000535904.1_Missense_Mutation_p.G86V|PRB4_ENST00000445719.2_Missense_Mutation_p.G86V	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	86	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.			Missing (in Ref. 7; CAA30542).		extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GGACTGGTTGCCTCCTTGTGG	0.607000										HNSCC(22;0.051)			47	780					1.39843e-22	2.66931e-22	1	1	0
MUC16	94025	broad.mit.edu	37	19	9060123	9060123	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:9060123G>T	ENST00000397910.4	-	3	27526	c.27323C>A	c.(27322-27324)tCa>tAa	p.S9108*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9110	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						AGATGCAGTTGAGTGGGTCCC	0.488000													10	45					0.000442599	0.00049728	1	1	0
OR10Z1	128368	broad.mit.edu	37	1	158576488	158576488	+	Missense_Mutation	SNP	G	G	T	rs145085081	by1000genomes	TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:158576488G>T	ENST00000361284.1	+	1	260	c.260G>T	c.(259-261)gGg>gTg	p.G87V		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GGCCTGGCTGGGGGGGACCAG	0.547000													64	179					1.08141e-31	2.16906e-31	1	1	0
ATG13	9776	broad.mit.edu	37	11	46686425	46686425	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:46686425G>T	ENST00000434074.1	+	11	1505	c.816G>T	c.(814-816)caG>caT	p.Q272H	ATG13_ENST00000528494.1_Missense_Mutation_p.Q305H|ATG13_ENST00000359513.4_Missense_Mutation_p.Q272H|ATG13_ENST00000530500.1_Intron|ATG13_ENST00000529655.1_Intron|ATG13_ENST00000524625.1_Intron|ATG13_ENST00000526508.1_Missense_Mutation_p.Q272H|ATG13_ENST00000451945.1_Intron|ATG13_ENST00000312040.4_Missense_Mutation_p.Q272H	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	272					autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						TTTCCTATCAGCCTGCTGCCC	0.478000													30	137					1.80694e-10	2.78744e-10	1	1	0
MARCH2	51257	broad.mit.edu	37	19	8495557	8495557	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:8495557G>T	ENST00000602117.1	+	4	843	c.388G>T	c.(388-390)Ggg>Tgg	p.G130W	MARCH2_ENST00000215555.2_Missense_Mutation_p.G130W|MARCH2_ENST00000601283.1_Intron|MARCH2_ENST00000393944.1_Missense_Mutation_p.G130W|MARCH2_ENST00000381035.4_Intron			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	130					endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						GAAGGACCCGGGGCCGCGGAC	0.667000													17	50					3.32936e-07	4.45196e-07	1	1	0
MGA	23269	broad.mit.edu	37	15	42042358	42042358	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr15:42042358A>T	ENST00000219905.7	+	17	6734	c.6553A>T	c.(6553-6555)Aaa>Taa	p.K2185*	MGA_ENST00000570161.1_Nonsense_Mutation_p.K2185*|MGA_ENST00000545763.1_Nonsense_Mutation_p.K1976*|MGA_ENST00000389936.4_Nonsense_Mutation_p.K2146*|MGA_ENST00000566586.1_Nonsense_Mutation_p.K1976*	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2146						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		CTTAACCAGGAAATGTGTTGG	0.428000													6	16					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159650933	159650933	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:159650933G>T	ENST00000297267.9	+	10	1467	c.1267G>T	c.(1267-1269)Gat>Tat	p.D423Y	FNDC1_ENST00000340366.6_Intron	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	423	Fibronectin type-III 4.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TGCCCTGGTGGATGGTCTGCA	0.512000													29	136					9.39395e-14	1.58113e-13	1	1	0
MAPK4	5596	broad.mit.edu	37	18	48252397	48252397	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr18:48252397C>G	ENST00000400384.2	+	5	1955	c.919C>G	c.(919-921)Ctg>Gtg	p.L307V	MAPK4_ENST00000540640.1_Missense_Mutation_p.L96V|MAPK4_ENST00000592595.1_Intron	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	307	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		TGAGATGGGGCTGCAACACCC	0.552000													18	30					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55976616	55976616	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr4:55976616G>T	ENST00000263923.4	-	9	1504	c.1209C>A	c.(1207-1209)ccC>ccA	p.P403P		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	403	Ig-like C2-type 4.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CCTTTGAAATGGGATTGGTAA	0.423000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			8	22					1.12685e-05	1.38035e-05	1	1	0
ZNF772	400720	broad.mit.edu	37	19	57985769	57985769	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:57985769C>A	ENST00000343280.4	-	5	603	c.343G>T	c.(343-345)Gat>Tat	p.D115Y	ZNF772_ENST00000427512.2_Missense_Mutation_p.D3Y|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000356584.3_Missense_Mutation_p.D74Y|ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000600175.1_Intron|AC004076.9_ENST00000596831.1_Intron|ZNF772_ENST00000425074.3_Missense_Mutation_p.R31S	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		ATCTCTTCATCCTCCATTCCA	0.463000													10	19					2.17888e-05	2.63559e-05	1	1	0
COL6A3	1293	broad.mit.edu	37	2	238277416	238277416	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:238277416G>A	ENST00000295550.4	-	10	5142	c.4690C>T	c.(4690-4692)Cgt>Tgt	p.R1564C	COL6A3_ENST00000347401.3_Missense_Mutation_p.R1363C|COL6A3_ENST00000346358.4_Missense_Mutation_p.R1364C|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1358C|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1358C|COL6A3_ENST00000472056.1_Missense_Mutation_p.R957C	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1564	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCCGAGGAACGGATCACCTGG	0.587000													58	90					0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170800136	170800136	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:170800136G>A	ENST00000436636.2	-	27	3561	c.3217C>T	c.(3217-3219)Cga>Tga	p.R1073*	TNIK_ENST00000470834.1_Nonsense_Mutation_p.R1036*|TNIK_ENST00000341852.6_Nonsense_Mutation_p.R989*|TNIK_ENST00000538048.1_Nonsense_Mutation_p.R1025*|TNIK_ENST00000284483.8_Nonsense_Mutation_p.R1065*|TNIK_ENST00000488470.1_Nonsense_Mutation_p.R1018*|TNIK_ENST00000357327.5_Nonsense_Mutation_p.R1044*|TNIK_ENST00000475336.1_Nonsense_Mutation_p.R981*|TNIK_ENST00000460047.1_Nonsense_Mutation_p.R1010*|TNIK_ENST00000369326.5_Nonsense_Mutation_p.R1051*	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1073	CNH.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.R1073*(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TGCCCACTTCGGTCCAAAAGC	0.433000													6	18					0	0	1	0	0
MDM4	4194	broad.mit.edu	37	1	204518288	204518288	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:204518288G>T	ENST00000367182.3	+	11	1113	c.951G>T	c.(949-951)aaG>aaT	p.K317N	MDM4_ENST00000454264.2_Missense_Mutation_p.K267N|MDM4_ENST00000367183.3_Intron|MDM4_ENST00000463049.1_3'UTR|MDM4_ENST00000391947.2_3'UTR|MDM4_ENST00000507825.2_Intron	NM_001204171.1|NM_001278516.1|NM_001278517.1|NM_001278518.1|NM_001278519.1|NM_002393.4	NP_001191100.1|NP_001265445.1|NP_001265446.1|NP_001265447.1|NP_001265448.1|NP_002384.2	O15151	MDM4_HUMAN	Mdm4 p53 binding protein homolog (mouse)	317	Region II.				apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization	nucleus	enzyme binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CTCCAAGCAAGAGGTACTGTT	0.423000			A		"""GBM, bladder, retinoblastoma"""								15	42					0.00316338	0.00340024	1	1	0
HIST1H1E	3008	broad.mit.edu	37	6	26157276	26157276	+	Nonstop_Mutation	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:26157276T>A	ENST00000304218.3	+	1	718	c.658T>A	c.(658-660)Tag>Aag	p.*220K		NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	0					nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						CAAGAAAAAGTAGAAAGTTCC	0.522000													9	42					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197297671	197297671	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:197297671G>T	ENST00000367400.3	+	2	325	c.190G>T	c.(190-192)Gac>Tac	p.D64Y	CRB1_ENST00000367399.2_Missense_Mutation_p.D64Y|CRB1_ENST00000538660.1_Missense_Mutation_p.D64Y|CRB1_ENST00000535699.1_5'UTR	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	64	EGF-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			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						CAATAATTTGGACAAAGACTG	0.423000													16	20					3.41278e-10	5.19545e-10	1	1	0
CHAT	1103	broad.mit.edu	37	10	50863174	50863174	+	Missense_Mutation	SNP	C	C	A	rs55702495		TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:50863174C>A	ENST00000395562.2	+	13	1891	c.1422C>A	c.(1420-1422)agC>agA	p.S474R	CHAT_ENST00000351556.3_Missense_Mutation_p.S438R|CHAT_ENST00000455728.2_Missense_Mutation_p.S438R|CHAT_ENST00000337653.2_Missense_Mutation_p.S556R|CHAT_ENST00000339797.1_Missense_Mutation_p.S438R|CHAT_ENST00000395559.2_Missense_Mutation_p.S438R	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	556					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CCTACGAGAGCGCGTCCATCC	0.542000													44	84					1.15505e-17	2.07693e-17	1	1	0
SLC43A2	124935	broad.mit.edu	37	17	1494731	1494731	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:1494731G>T	ENST00000571650.1	-	8	1069	c.763C>A	c.(763-765)Cac>Aac	p.H255N	SLC43A2_ENST00000382147.4_Missense_Mutation_p.H255N|SLC43A2_ENST00000574274.1_5'UTR|SLC43A2_ENST00000412517.3_Missense_Mutation_p.H118N|SLC43A2_ENST00000301335.4_Missense_Mutation_p.H255N			Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	255					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		GTGATCTTGTGGTCAAAGCCC	0.672000													41	23					6.5261e-18	1.18205e-17	1	1	0
ILVBL	10994	broad.mit.edu	37	19	15226101	15226101	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:15226101C>A	ENST00000263383.3	-	16	2000	c.1861G>T	c.(1861-1863)Ggg>Tgg	p.G621W	ILVBL_ENST00000534378.1_Missense_Mutation_p.G514W	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	621						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						TCCGTCCTCCCAATGAGGATG	0.617000													20	77					1.01871e-10	1.58416e-10	1	1	0
PYROXD1	79912	broad.mit.edu	37	12	21620471	21620471	+	Silent	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:21620471T>A	ENST00000538582.1	+	11	1713	c.960T>A	c.(958-960)gcT>gcA	p.A320A	PYROXD1_ENST00000240651.9_Silent_p.A391A			Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 1	391							oxidoreductase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						AGTGCATGGCTGCAGCGAGTT	0.388000													19	43					0	0	1	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49791160	49791160	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:49791160C>A	ENST00000249601.4	-	2	368	c.72G>T	c.(70-72)cgG>cgT	p.R24R	ARHGAP22_ENST00000417912.2_Silent_p.R24R|ARHGAP22_ENST00000435790.2_Silent_p.R30R|ARHGAP22_ENST00000491108.1_5'UTR	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	24					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCCCAGGGCTCCGGCTCTGCT	0.637000													117	212					1.90295e-47	3.91638e-47	1	1	0
TRIOBP	11078	broad.mit.edu	37	22	38122313	38122313	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr22:38122313G>T	ENST00000406386.3	+	7	4005	c.3750G>T	c.(3748-3750)ggG>ggT	p.G1250G	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1250					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GCAGCTCTGGGGGCTCCCGGG	0.721000													19	45					5.35267e-07	7.10824e-07	1	1	0
MGAT5	4249	broad.mit.edu	37	2	135076237	135076237	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:135076237G>T	ENST00000409645.1	+	5	752	c.500G>T	c.(499-501)tGg>tTg	p.W167L	MGAT5_ENST00000281923.2_Missense_Mutation_p.W167L			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	167					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		AAAGACATGTGGCGTTCAGAT	0.502000													20	97					8.34094e-07	1.0877e-06	1	1	0
RASL12	51285	broad.mit.edu	37	15	65350890	65350890	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr15:65350890G>T	ENST00000220062.4	-	4	576	c.300C>A	c.(298-300)gtC>gtA	p.V100V	RASL12_ENST00000434605.2_Silent_p.V89V|RASL12_ENST00000421977.3_Silent_p.V81V	NM_016563.2	NP_057647.1	Q9NYN1	RASLC_HUMAN	RAS-like, family 12	100					small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			lung(1)|ovary(1)|skin(1)|urinary_tract(1)	4						GGCGGCTGTCGACGCTGTACA	0.652000													12	35					3.07112e-06	3.87684e-06	1	1	0
C17orf66	256957	broad.mit.edu	37	17	34185975	34185975	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:34185975C>A	ENST00000311880.2	-	9	1004	c.856G>T	c.(856-858)Ggt>Tgt	p.G286C	C17orf66_ENST00000592980.1_Missense_Mutation_p.G246C	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN	chromosome 17 open reading frame 66	286							binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CTCAGGAAACCCAGGCACAGG	0.572000													21	116					4.96729e-08	6.91361e-08	1	1	0
ASNA1	439	broad.mit.edu	37	19	12858360	12858360	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:12858360A>T	ENST00000591090.1	+	7	971	c.869A>T	c.(868-870)aAg>aTg	p.K290M	ASNA1_ENST00000357332.3_Missense_Mutation_p.K290M			O43681	ASNA_HUMAN	arsA arsenite transporter, ATP-binding, homolog 1 (bacterial)	290					response to arsenic-containing substance	endoplasmic reticulum|nucleolus|soluble fraction	arsenite-transporting ATPase activity|ATP binding|metal ion binding			endometrium(1)|lung(6)|ovary(3)	10					Adenosine triphosphate(DB00171)	AAGCCCTGCAAGATGTGTGAG	0.567000													16	36					0	0	1	0	0
NRDE2	55051	broad.mit.edu	37	14	90756769	90756769	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr14:90756769C>A	ENST00000354366.3	-	10	2257	c.2025G>T	c.(2023-2025)aaG>aaT	p.K675N	NRDE2_ENST00000357904.3_Missense_Mutation_p.K444N	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing																		AAGTCAAGGGCTTTTCATCAT	0.498000													21	27					2.4624e-09	3.64016e-09	1	1	0
SSH1	54434	broad.mit.edu	37	12	109182759	109182759	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:109182759C>A	ENST00000326495.5	-	15	2248	c.2155G>T	c.(2155-2157)Ggc>Tgc	p.G719C	SSH1_ENST00000360239.3_Missense_Mutation_p.G407C	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	719					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTCCTGGAGCCTGCTGGTGGT	0.652000													43	77					9.9191e-30	1.97813e-29	1	1	0
OR2T2	401992	broad.mit.edu	37	1	248617031	248617031	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:248617031C>A	ENST00000342927.3	+	1	955	c.933C>A	c.(931-933)tcC>tcA	p.S311S		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	311					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)			GATGTGGTTCCTCCCAGAGCA	0.547000													10	39					6.40141e-05	7.56927e-05	1	1	0
COL9A1	1297	broad.mit.edu	37	6	70991137	70991137	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:70991137C>A	ENST00000357250.6	-	8	990	c.832G>T	c.(832-834)Ggg>Tgg	p.G278W	COL9A1_ENST00000320755.7_Missense_Mutation_p.G35W|COL9A1_ENST00000370496.3_Missense_Mutation_p.G278W|COL9A1_ENST00000370499.4_Missense_Mutation_p.G35W	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	278	Triple-helical region (COL3).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CCCGGAGGCCCGGGAGGACCC	0.602000													18	14					5.35267e-07	7.10824e-07	1	1	0
PTPRC	5788	broad.mit.edu	37	1	198675959	198675959	+	Missense_Mutation	SNP	G	G	T	rs142941257	byFrequency	TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:198675959G>T	ENST00000367376.2	+	9	947	c.776G>T	c.(775-777)gGa>gTa	p.G259V	PTPRC_ENST00000442510.2_Missense_Mutation_p.G261V|PTPRC_ENST00000594404.1_Missense_Mutation_p.G98V|PTPRC_ENST00000348564.6_Missense_Mutation_p.G100V|PTPRC_ENST00000352140.3_Missense_Mutation_p.G211V	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	259					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GTGGAATGTGGAAACAATACT	0.318000													5	48					0.000602214	0.000671403	1	1	0
DENND4B	9909	broad.mit.edu	37	1	153909160	153909160	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:153909160C>A	ENST00000361217.4	-	16	2715	c.2297G>T	c.(2296-2298)tGc>tTc	p.C766F		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	766										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCCCAGCAGGCACCGGGCCCA	0.607000													36	25					4.46736e-08	6.30879e-08	1	1	0
SEL1L	6400	broad.mit.edu	37	14	81969147	81969147	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr14:81969147C>A	ENST00000336735.4	-	6	811	c.695G>T	c.(694-696)gGt>gTt	p.G232V	SEL1L_ENST00000555824.1_Missense_Mutation_p.G232V	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	232	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		CAAGTAATCACCAAATAAAAG	0.438000													19	28					6.94344e-10	1.04785e-09	1	1	0
PADI4	23569	broad.mit.edu	37	1	17668573	17668573	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:17668573G>A	ENST00000375448.4	+	7	814	c.788G>A	c.(787-789)gGg>gAg	p.G263E	AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	263					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	GACTTCCCGGGGCTCATTACC	0.642000													18	71					0	0	1	0	0
CHST2	9435	broad.mit.edu	37	3	142840124	142840124	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:142840124G>T	ENST00000309575.3	+	2	1850	c.466G>T	c.(466-468)Ggc>Tgc	p.G156C		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	156					inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						TGGCACTCGGGGCACCGGGGG	0.706000													8	38					0.00621372	0.00662974	1	1	0
ZNF784	147808	broad.mit.edu	37	19	56135914	56135914	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:56135914C>A	ENST00000325351.4	-	1	53	c.14G>T	c.(13-15)cGc>cTc	p.R5L	ZNF784_ENST00000591479.1_Missense_Mutation_p.R5L	NM_203374.1	NP_976308.1	Q8NCA9	ZN784_HUMAN	zinc finger protein 784	5					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		GGCCTCTGGGCGCGCAGCGGC	0.692000													5	4					0.184627	0.186887	1	1	0
STRN3	29966	broad.mit.edu	37	14	31416424	31416424	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr14:31416424C>A	ENST00000355683.5	-	5	803	c.588G>T	c.(586-588)cgG>cgT	p.R196R	STRN3_ENST00000357479.5_Silent_p.R196R	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	196					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		CCCGCTGAGACCGTACATCTA	0.358000													17	21					2.23348e-06	2.84843e-06	1	1	0
ANXA6	309	broad.mit.edu	37	5	150509059	150509059	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:150509059C>G	ENST00000354546.5	-	12	1054	c.827G>C	c.(826-828)cGc>cCc	p.R276P	ANXA6_ENST00000523714.1_Missense_Mutation_p.R244P|ANXA6_ENST00000356496.5_Missense_Mutation_p.R276P|ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000521512.1_Intron	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	276						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GACCATGATGCGGATCAGGGT	0.542000													5	8					0	0	1	0	0
RABGAP1L	9910	broad.mit.edu	37	1	174781081	174781081	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:174781081C>T	ENST00000489615.1	+	2	681	c.280C>T	c.(280-282)Cag>Tag	p.Q94*	RABGAP1L_ENST00000325589.5_Nonsense_Mutation_p.Q82*|RABGAP1L_ENST00000347255.2_Nonsense_Mutation_p.Q102*|RABGAP1L_ENST00000367687.1_Nonsense_Mutation_p.Q101*|RABGAP1L_ENST00000251507.4_Nonsense_Mutation_p.Q775*|RABGAP1L_ENST00000367686.3_3'UTR	NM_001243765.1	NP_001230694.1	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	775					regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						ACTGATGGAGCAGGCTTGCAA	0.323000													10	10					0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47703707	47703707	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr21:47703707C>A	ENST00000397708.1	-	3	1519	c.1265G>T	c.(1264-1266)aGc>aTc	p.S422I	MCM3AP_ENST00000291688.1_Missense_Mutation_p.S422I			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	422					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					ACTGTCTGTGCTCTCGCTTCT	0.507000													32	35					7.11191e-15	1.21828e-14	1	1	0
KRT34	3885	broad.mit.edu	37	17	39538478	39538478	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:39538478C>A	ENST00000394001.1	-	1	177	c.147G>T	c.(145-147)ctG>ctT	p.L49L		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	49	Head.				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)				CCAGGCTGGGCAGGCAACAAC	0.627000													45	106					4.67007e-22	8.89463e-22	1	1	0
TUBA3C	7278	broad.mit.edu	37	13	19752464	19752464	+	Silent	SNP	C	C	T	rs142499533		TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr13:19752464C>T	ENST00000400113.3	-	3	401	c.297G>A	c.(295-297)gcG>gcA	p.A99A		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	99					'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)		AATTATTGGCCGCATCTTCCT	0.522000													35	85					0	0	1	0	0
OR5AR1	219493	broad.mit.edu	37	11	56431268	56431268	+	Missense_Mutation	SNP	T	T	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:56431268T>G	ENST00000302969.2	+	1	131	c.107T>G	c.(106-108)cTg>cGg	p.L36R		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						ATAGTTTACCTGGTTAATGTA	0.423000													19	81					0	0	1	0	0
SPRR1A	6698	broad.mit.edu	37	1	152957731	152957731	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:152957731C>A	ENST00000307122.2	+	2	89	c.25C>A	c.(25-27)Cct>Act	p.P9T	SPRR1A_ENST00000368762.1_Missense_Mutation_p.P9T	NM_001199828.1|NM_005987.3	NP_001186757.1|NP_005978.2	P35321	SPR1A_HUMAN	small proline-rich protein 1A	9	2 X 12 AA approximate repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(2)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)	7	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCAGAAGCAGCCTTGCACCCC	0.488000													56	264					2.84144e-21	5.38231e-21	1	1	0
UHRF1	29128	broad.mit.edu	37	19	4944410	4944410	+	RNA	SNP	A	A	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:4944410A>G	ENST00000592666.1	+	0	1829							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		TCCAACCACTACGGACCCATC	0.662000													39	47					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112435334	112435334	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:112435334G>T	ENST00000230538.7	-	38	5668	c.5271C>A	c.(5269-5271)ccC>ccA	p.P1757P	LAMA4_ENST00000389463.4_Silent_p.P1750P|LAMA4_ENST00000522006.1_Silent_p.P1750P|LAMA4_ENST00000424408.2_Silent_p.P1750P	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1757	Laminin G-like 5.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TTGGATTCAGGGGTCCAACCA	0.428000													6	14					0.0215528	0.0224443	1	1	0
DZIP3	9666	broad.mit.edu	37	3	108343371	108343371	+	Splice_Site	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:108343371G>T	ENST00000361582.3	+	6	686	c.456_splice	c.e6+1	p.E152_splice	DZIP3_ENST00000463306.1_Splice_Site_p.E152_splice	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	152					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GAAAGAAAGAGGTATGTAACA	0.274000													14	15					1.3612e-06	1.76977e-06	1	1	0
MCU	90550	broad.mit.edu	37	10	74631228	74631228	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:74631228G>C	ENST00000536019.1	+	6	1049	c.604G>C	c.(604-606)Gcc>Ccc	p.A202P	MCU_ENST00000373053.3_Missense_Mutation_p.A251P|MCU_ENST00000357157.6_Missense_Mutation_p.A230P|MCU_ENST00000605416.1_3'UTR	NM_001270680.1	NP_001257609.1	Q8NE86	MCU_HUMAN	mitochondrial calcium uniporter	251					elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						TGGCATTTTGGCCCGGCTTAC	0.463000													46	64					0	0	1	0	0
MAP3K14	9020	broad.mit.edu	37	17	43367931	43367931	+	RNA	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:43367931C>A	ENST00000344686.2	-	0	289							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TTGGTAATCACGTCATTCAGG	0.592000													36	72					3.6622e-26	7.21229e-26	1	1	0
ANO5	203859	broad.mit.edu	37	11	22294475	22294475	+	Silent	SNP	T	T	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:22294475T>C	ENST00000324559.8	+	19	2492	c.2175T>C	c.(2173-2175)caT>caC	p.H725H	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	725						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTAAAGCTCATAGCATAGGTG	0.408000													9	20					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62284502	62284502	+	Missense_Mutation	SNP	G	G	A	rs139479070	byFrequency	TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:62284502G>A	ENST00000378024.4	-	5	17661	c.17387C>T	c.(17386-17388)aCg>aTg	p.T5796M	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000525875.1_5'UTR|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5796					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CAGCGTCCCCGTCGGGGTGGA	0.493000													52	87					0	0	1	0	0
OR1F2P	26184	broad.mit.edu	37	16	3265989	3265989	+	RNA	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr16:3265989C>T	ENST00000576468.1	+	0	418																											CGCCGTGTGCCGCCCCTTACA	0.532000													29	74					0	0	1	0	0
GLRX3	10539	broad.mit.edu	37	10	131943583	131943583	+	Splice_Site	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:131943583G>T	ENST00000368644.1	+	2	223	c.201_splice	c.e2+1	p.K67_splice	GLRX3_ENST00000331244.5_Splice_Site_p.K67_splice	NM_001199868.1	NP_001186797.1	O76003	GLRX3_HUMAN	glutaredoxin 3	67	Thioredoxin.			K -> R (in Ref. 3; BAG51067).	cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(5)|lung(7)	13		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)		CATTTGTGAAGGTATTTATAT	0.423000													16	10					0.00316338	0.00340024	1	1	0
COPA	1314	broad.mit.edu	37	1	160276211	160276211	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:160276211C>A	ENST00000241704.7	-	15	1604	c.1375G>T	c.(1375-1377)Gct>Tct	p.A459S	COPA_ENST00000368069.3_Missense_Mutation_p.A459S	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	459					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCTGTGCCAGCATAGAAGATC	0.463000													26	52					4.72057e-08	6.60196e-08	1	1	0
HTR7	3363	broad.mit.edu	37	10	92617012	92617012	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:92617012G>T	ENST00000371721.3	-	1	659	c.417C>A	c.(415-417)agC>agA	p.S139R	HTR7_ENST00000336152.3_Missense_Mutation_p.S139R|HTR7_ENST00000371719.2_Missense_Mutation_p.S139R|HTR7_ENST00000277874.6_Missense_Mutation_p.S139R			P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	139					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	GGTCGGTGACGCTGACGAAGG	0.592000													34	47					1.836e-18	3.34642e-18	1	1	0
C3orf20	84077	broad.mit.edu	37	3	14803060	14803060	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:14803060G>T	ENST00000253697.3	+	15	2885	c.2433G>T	c.(2431-2433)caG>caT	p.Q811H	C3orf20_ENST00000412910.1_Missense_Mutation_p.Q689H|C3orf20_ENST00000435614.1_Missense_Mutation_p.Q689H	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	811						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						TGCTGAAACAGATCTTCCGGT	0.498000													10	37					2.74318e-10	4.20185e-10	1	1	0
BIN1	274	broad.mit.edu	37	2	127834262	127834262	+	Missense_Mutation	SNP	C	C	A	rs121909273		TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:127834262C>A	ENST00000316724.5	-	2	516	c.105G>T	c.(103-105)aaG>aaT	p.K35N	BIN1_ENST00000357970.3_Missense_Mutation_p.K35N|BIN1_ENST00000259238.4_Missense_Mutation_p.K35N|BIN1_ENST00000351659.3_Missense_Mutation_p.K35N|BIN1_ENST00000346226.3_Missense_Mutation_p.K35N|BIN1_ENST00000409400.1_Missense_Mutation_p.K35N|BIN1_ENST00000393041.3_Missense_Mutation_p.K35N|BIN1_ENST00000376113.2_Missense_Mutation_p.K35N|BIN1_ENST00000393040.3_Missense_Mutation_p.K35N|BIN1_ENST00000348750.4_Missense_Mutation_p.K35N|BIN1_ENST00000352848.3_Missense_Mutation_p.K35N	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	35	BAR.|Interaction with BIN2.		K -> N (in ARCNM; abolishes membrane tubulation).		cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TCTCATCTGCCTTCCCCAGCT	0.527000													62	71					2.69953e-25	5.27457e-25	1	1	0
OR8D4	338662	broad.mit.edu	37	11	123777147	123777147	+	Silent	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:123777147A>T	ENST00000321355.2	+	1	39	c.9A>T	c.(7-9)gtA>gtT	p.V3V		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V3V(1)		large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		GAATGGGTGTAAAAAACCATT	0.383000													4	22					0	0	1	0	0
RFWD2	64326	broad.mit.edu	37	1	176012321	176012321	+	Splice_Site	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:176012321C>T	ENST00000367669.3	-	14	2127		c.e14+1		RFWD2_ENST00000308769.8_Splice_Site	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase						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						TCAAACAGTACCTTTTGCATC	0.413000													26	45					0	0	1	0	0
CTNNAL1	8727	broad.mit.edu	37	9	111761455	111761455	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:111761455C>A	ENST00000374595.4	-	2	302	c.223G>T	c.(223-225)Gtc>Ttc	p.V75F	CTNNAL1_ENST00000325551.4_Missense_Mutation_p.V75F|CTNNAL1_ENST00000374593.4_Missense_Mutation_p.V75F|CTNNAL1_ENST00000325580.6_Missense_Mutation_p.V75F			Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	75					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		GCCAAGTTGACAGCTTGTCCT	0.323000													12	34					6.42651e-13	1.05609e-12	1	1	0
FOXC2	2303	broad.mit.edu	37	16	86601425	86601425	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr16:86601425C>A	ENST00000320354.4	+	1	569	c.484C>A	c.(484-486)Ctg>Atg	p.L162M		NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	162					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding	p.L162L(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						CGGCAGCTTCCTGCGGCGCCG	0.667000									Late-onset Hereditary Lymphedema				56	41					9.72345e-25	1.8829e-24	1	1	0
MSL2	55167	broad.mit.edu	37	3	135870596	135870596	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:135870596C>G	ENST00000309993.2	-	2	1859	c.1127G>C	c.(1126-1128)cGg>cCg	p.R376P	MSL2_ENST00000434835.2_Missense_Mutation_p.R302P	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	376					histone H4-K16 acetylation	MSL complex	zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						TTTGCTCTCCCGTTTCACTGT	0.438000													6	49					0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38227596	38227596	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:38227596C>A	ENST00000373048.4	-	3	330	c.331G>T	c.(331-333)Gac>Tac	p.D111Y	EPHA10_ENST00000427468.2_Missense_Mutation_p.D111Y|EPHA10_ENST00000319637.6_Missense_Mutation_p.D111Y	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	111						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTGCTGCAGTCACGGAGTGTG	0.637000													86	101					1.02218e-41	2.08886e-41	1	1	0
BDKRB1	623	broad.mit.edu	37	14	96730966	96730966	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr14:96730966G>T	ENST00000216629.6	+	3	1553	c.947G>T	c.(946-948)gGc>gTc	p.G316V	BDKRB1_ENST00000553356.1_Missense_Mutation_p.G250V|RP11-404P21.3_ENST00000553638.1_RNA	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	316					elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		GTCTTTGTGGGCCGGCTCTTC	0.458000													15	123					1.05317e-09	1.57703e-09	1	1	0
JAK2	3717	broad.mit.edu	37	9	5126757	5126757	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:5126757G>T	ENST00000381652.3	+	25	3859	c.3365G>T	c.(3364-3366)cGa>cTa	p.R1122L	JAK2_ENST00000544510.1_Missense_Mutation_p.R973L|JAK2_ENST00000487310.1_3'UTR|JAK2_ENST00000539801.1_Missense_Mutation_p.R1122L	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	1122	Protein kinase 2.				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	p.R1122P(2)	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)		CTAGCTCTTCGAGTGGATCAA	0.353000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				5	12					0.000602214	0.000671403	1	1	0
JPH2	57158	broad.mit.edu	37	20	42788290	42788290	+	Silent	SNP	G	G	T	rs143158930		TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr20:42788290G>T	ENST00000372980.3	-	2	2009	c.1137C>A	c.(1135-1137)atC>atA	p.I379I		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	379	Ala-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TCTGGCGCGCGATAGCAGCGG	0.672000													11	41					1.58986e-06	2.0517e-06	1	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110457348	110457348	+	Silent	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:110457348C>T	ENST00000378402.5	+	38	5354	c.5250C>T	c.(5248-5250)taC>taT	p.Y1750Y		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1750	IPT/TIG 10.				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)			TCACTCCTTACATAACAGGAG	0.438000										HNSCC(38;0.096)			12	67					0	0	1	0	0
TM6SF2	53345	broad.mit.edu	37	19	19378819	19378819	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:19378819G>T	ENST00000389363.4	-	7	759	c.687C>A	c.(685-687)ggC>ggA	p.G229G	AC138430.4_ENST00000586064.2_RNA	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	229						integral to membrane				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			GAGTGAAGAAGCCAGCAAGGA	0.607000													10	43					7.48243e-07	9.81645e-07	1	1	0
SPNS3	201305	broad.mit.edu	37	17	4356453	4356453	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:4356453C>T	ENST00000355530.2	+	8	1346	c.1066C>T	c.(1066-1068)Ctc>Ttc	p.L356F	SPNS3_ENST00000333476.2_Missense_Mutation_p.L229F|SPNS3_ENST00000576069.1_3'UTR	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	356					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						AGCCCCCTGCCTCTACCTGGC	0.632000													91	56					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51393611	51393611	+	Silent	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:51393611C>T	ENST00000266037.9	+	42	4364	c.4341C>T	c.(4339-4341)cgC>cgT	p.R1447R		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1447	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GCTTCTATCGCGTCAACAATG	0.483000													11	46					0	0	1	0	0
UBASH3A	53347	broad.mit.edu	37	21	43838704	43838704	+	Silent	SNP	G	G	T	rs137938408		TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr21:43838704G>T	ENST00000319294.6	+	7	1063	c.1032G>T	c.(1030-1032)acG>acT	p.T344T	UBASH3A_ENST00000398367.1_Silent_p.T306T|UBASH3A_ENST00000291535.6_Silent_p.T306T	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	344						cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						AGTCTGACACGTGGGTGAAGC	0.602000													32	16					2.61193e-14	4.43492e-14	1	1	0
CACNA1B	774	broad.mit.edu	37	9	140907688	140907688	+	Splice_Site	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:140907688G>T	ENST00000277549.5	+	18	2412		c.e18+1		CACNA1B_ENST00000371357.1_Splice_Site|CACNA1B_ENST00000277551.2_Splice_Site|CACNA1B_ENST00000277550.3_Splice_Site|CACNA1B_ENST00000371363.1_Splice_Site|CACNA1B_ENST00000371355.4_Splice_Site|CACNA1B_ENST00000371372.1_Splice_Site			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit						membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CCATCGCCGCGTAAGGCTCCT	0.607000													12	13					2.80697e-09	4.13196e-09	1	1	0
ZDHHC8P1	150244	broad.mit.edu	37	22	23742486	23742486	+	RNA	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr22:23742486G>A	ENST00000255890.4	-	0	723																											TTGTGGTTGGGCAGTGCATGG	0.662000													4	48					0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	15990436	15990436	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:15990436G>T	ENST00000221700.5	-	11	1387	c.1292C>A	c.(1291-1293)cCa>cAa	p.P431Q	CYP4F2_ENST00000592328.1_Missense_Mutation_p.P431Q	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	431					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CCACACAGCTGGGTTGTGATG	0.577000													32	143					1.61788e-16	2.86761e-16	1	1	0
FAM47C	442444	broad.mit.edu	37	X	37028400	37028400	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chrX:37028400G>T	ENST00000358047.3	+	1	1969	c.1917G>T	c.(1915-1917)atG>atT	p.M639I		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	639										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGACTCGGATGTACAGTCTCC	0.647000													31	63					6.53348e-20	1.20988e-19	1	1	0
WISP1	8840	broad.mit.edu	37	8	134237702	134237702	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:134237702C>A	ENST00000250160.6	+	4	786	c.680C>A	c.(679-681)tCc>tAc	p.S227Y	WISP1_ENST00000517423.1_Intron|WISP1_ENST00000377863.2_Missense_Mutation_p.S55Y|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000220856.6_Missense_Mutation_p.S140Y	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	227	TSP type-1.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			AGCCCTTGCTCCACCAGCTGC	0.597000													64	149					1.20869e-33	2.44128e-33	1	1	0
PCDHA5	56143	broad.mit.edu	37	5	140203482	140203482	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:140203482A>T	ENST00000529859.1	+	1	2122	c.2122A>T	c.(2122-2124)Agc>Tgc	p.S708C	PCDHA5_ENST00000378126.3_Missense_Mutation_p.S708C|PCDHA5_ENST00000529619.1_Missense_Mutation_p.S708C|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGGTGTCCAGCCTGCTGGT	0.687000													30	99					0	0	1	0	0
UPK1A	11045	broad.mit.edu	37	19	36168764	36168764	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:36168764C>A	ENST00000379013.2	+	7	797	c.797C>A	c.(796-798)tCt>tAt	p.S266Y	UPK1A_ENST00000222275.2_Silent_p.I233I			O00322	UPK1A_HUMAN	uroplakin 1A	0					epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CGTGGGGTATCTCGTGGTTTG	0.652000													14	20					1.36491e-13	2.29068e-13	1	1	0
SERPINA7	6906	broad.mit.edu	37	X	105278317	105278317	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chrX:105278317G>C	ENST00000327674.4	-	3	1288	c.953C>G	c.(952-954)gCc>gGc	p.A318G	SERPINA7_ENST00000487487.1_5'UTR|SERPINA7_ENST00000372563.1_Missense_Mutation_p.A318G			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	318					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)	CAAAAGTGTGGCTCCAAGGTC	0.418000													8	6					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88964853	88964853	+	Silent	SNP	A	A	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:88964853A>C	ENST00000333190.4	+	4	3166	c.2557A>C	c.(2557-2559)Aga>Cga	p.R853R		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	853						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TCAGCACGACAGATTGGACTC	0.388000										HNSCC(36;0.09)			5	21					0	0	1	0	0
TMEM207	131920	broad.mit.edu	37	3	190158128	190158128	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:190158128A>G	ENST00000354905.2	-	4	275	c.209T>C	c.(208-210)gTc>gCc	p.V70A		NM_207316.1	NP_997199.1	Q6UWW9	TM207_HUMAN	transmembrane protein 207	70						integral to membrane				endometrium(1)|large_intestine(2)|lung(4)	7	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;0.0176)		GAGGCAGAGGACCACAGCTCC	0.517000													7	42					0	0	1	0	0
HERPUD2	64224	broad.mit.edu	37	7	35674870	35674870	+	Silent	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:35674870G>A	ENST00000396081.1	-	6	1620	c.816C>T	c.(814-816)ttC>ttT	p.F272F	HERPUD2_ENST00000426180.1_5'UTR|HERPUD2_ENST00000311350.3_Silent_p.F272F	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	272					response to unfolded protein	integral to membrane				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						AGTCTCGATTGAAGTCTTCTT	0.438000													44	23					0	0	1	0	0
NAALAD2	10003	broad.mit.edu	37	11	89924760	89924760	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:89924760T>A	ENST00000534061.1	+	19	2298	c.2068T>A	c.(2068-2070)Tat>Aat	p.Y690N	NAALAD2_ENST00000375944.3_Missense_Mutation_p.N277K|NAALAD2_ENST00000321955.4_Missense_Mutation_p.Y657N	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	690					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CCACAACAAATATGCTGGAGA	0.343000													5	9					0	0	1	0	0
RBMX2	51634	broad.mit.edu	37	X	129546548	129546548	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chrX:129546548C>G	ENST00000305536.6	+	6	759	c.695C>G	c.(694-696)tCt>tGt	p.S232C		NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	232	Lys-rich.						nucleotide binding|RNA binding			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						ACGGCCTACTCTGGTGGAGCA	0.567000													41	16					0	0	1	0	0
SGCZ	137868	broad.mit.edu	37	8	14022112	14022112	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:14022112C>A	ENST00000382080.1	-	5	1239	c.524G>T	c.(523-525)gGg>gTg	p.G175V	SGCZ_ENST00000421524.2_Missense_Mutation_p.G128V|RP11-3G21.1_ENST00000527110.1_RNA	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	162					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		CTTTTCAGCCCCAATGGTAAT	0.408000													6	9					0.0215528	0.0224443	1	1	0
PLTP	5360	broad.mit.edu	37	20	44530969	44530969	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr20:44530969G>T	ENST00000542937.1	-	11	1706	c.1172C>A	c.(1171-1173)gCc>gAc	p.A391D	PLTP_ENST00000477313.1_Missense_Mutation_p.A371D|PLTP_ENST00000420868.2_Missense_Mutation_p.A276D|PLTP_ENST00000354050.4_Missense_Mutation_p.A319D|PLTP_ENST00000372431.3_Missense_Mutation_p.A371D|PLTP_ENST00000372420.1_Missense_Mutation_p.A283D			P55058	PLTP_HUMAN	phospholipid transfer protein	371					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				GCTGAGACGGGCGTCCTGCAG	0.637000													20	73					5.03518e-11	7.91503e-11	1	1	0
KCNH8	131096	broad.mit.edu	37	3	19492665	19492665	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:19492665G>T	ENST00000328405.2	+	10	1860	c.1594G>T	c.(1594-1596)Gat>Tat	p.D532Y	KCNH8_ENST00000537696.1_3'UTR	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	532						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						AGACTTTCCAGATGAACTGCG	0.453000													15	37					2.32078e-09	3.44842e-09	1	1	0
SURF6	6838	broad.mit.edu	37	9	136198862	136198862	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:136198862C>G	ENST00000372022.4	-	5	1194	c.929G>C	c.(928-930)cGc>cCc	p.R310P	SURF6_ENST00000468290.1_5'UTR	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN	surfeit 6	310						granular component	DNA binding|RNA binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		GCCGGCCGTGCGCTTCTCCCA	0.721000													7	55					0	0	1	0	0
FAM227B	196951	broad.mit.edu	37	15	49659651	49659651	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr15:49659651T>C	ENST00000299338.6	-	13	1568	c.1265A>G	c.(1264-1266)cAg>cGg	p.Q422R		NM_152647.2	NP_689860.2			family with sequence similarity 227, member B																		ATATGGTTCCTGGAATATCTT	0.299000													3	9					0	0	1	0	0
TUBB4A	10382	broad.mit.edu	37	19	6496002	6496002	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:6496002C>A	ENST00000264071.2	-	4	879	c.508G>T	c.(508-510)Gtg>Ttg	p.V170L	TUBB4A_ENST00000601152.1_3'UTR|TUBB4A_ENST00000540257.1_Missense_Mutation_p.V170L			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	170					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										GGCGAGGGCACCACGCTGAAG	0.612000													47	186					1.48734e-19	2.74257e-19	1	1	0
MYO1A	4640	broad.mit.edu	37	12	57432275	57432275	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:57432275G>A	ENST00000442789.2	-	18	1968	c.1681C>T	c.(1681-1683)Ccg>Tcg	p.P561S	MYO1A_ENST00000476795.1_5'UTR|MYO1A_ENST00000300119.3_Missense_Mutation_p.P561S|MYO1A_ENST00000544473.1_Missense_Mutation_p.P399S	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	561	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CCAGCAGTCGGGGGGCGTTTG	0.572000													53	55					0	0	1	0	0
GLRA4	441509	broad.mit.edu	37	X	102979156	102979156	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chrX:102979156T>A	ENST00000372617.4	-	4	764	c.344A>T	c.(343-345)gAc>gTc	p.D115V		NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	115						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GTCCAGAGAGTCATCAGGATA	0.547000													18	62					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176913069	176913069	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:176913069C>A	ENST00000367654.2	-	14	2372	c.2359G>T	c.(2359-2361)Gag>Tag	p.E787*	ASTN1_ENST00000361833.2_Nonsense_Mutation_p.E779*|ASTN1_ENST00000424564.2_Nonsense_Mutation_p.E779*|ASTN1_ENST00000367657.3_Nonsense_Mutation_p.E779*|ASTN1_ENST00000281881.3_5'UTR			O14525	ASTN1_HUMAN	astrotactin 1	787					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						GAGATCTCCTCTAGGCATTGA	0.532000													22	46					1.50039e-11	2.37357e-11	1	1	0
ZNF285	26974	broad.mit.edu	37	19	44891544	44891544	+	Missense_Mutation	SNP	T	T	C	rs146930422	byFrequency	TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:44891544T>C	ENST00000330997.4	-	4	927	c.863A>G	c.(862-864)tAt>tGt	p.Y288C	ZNF285_ENST00000591679.1_Missense_Mutation_p.Y295C|ZNF285_ENST00000544719.2_Missense_Mutation_p.Y288C|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						GTGGAATTCATAGGGAGTCTT	0.413000													32	51					0	0	1	0	0
ZDHHC17	23390	broad.mit.edu	37	12	77158109	77158109	+	Splice_Site	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:77158109G>C	ENST00000426126.2	+	1	742	c.93_splice	c.e1+1	p.E31_splice	ZDHHC17_ENST00000359019.4_Splice_Site_p.R16_splice|ZDHHC17_ENST00000334822.5_Splice_Site_p.E31_splice	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	31					lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						TCCACCCAGAGGTGAGGAACC	0.652000													5	8					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92762683	92762683	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:92762683C>T	ENST00000318238.4	-	5	3818	c.2602G>A	c.(2602-2604)Gct>Act	p.A868T	SAMD9L_ENST00000411955.1_Missense_Mutation_p.A868T|SAMD9L_ENST00000437805.1_Missense_Mutation_p.A868T	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	868										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GCACCAAAAGCTCTTTGTTCC	0.348000													7	23					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151874168	151874168	+	Silent	SNP	T	T	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:151874168T>C	ENST00000355193.2	-	38	8588	c.8370A>G	c.(8368-8370)gtA>gtG	p.V2790V	KMT2C_ENST00000262189.6_Silent_p.V2790V					lysine (K)-specific methyltransferase 2C																		GTTCAACAGATACACACTGAT	0.338000													6	32					0	0	1	0	0
GPR137B	7107	broad.mit.edu	37	1	236341876	236341876	+	Silent	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:236341876C>G	ENST00000366592.3	+	3	718	c.627C>G	c.(625-627)ctC>ctG	p.L209L	GPR137B_ENST00000366591.4_Intron	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	209						integral to plasma membrane|membrane fraction				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			CCGTCTCTCTCTCCATCTGTC	0.488000													22	49					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137650096	137650096	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:137650096G>A	ENST00000371817.3	+	18	2303	c.1889G>A	c.(1888-1890)cGg>cAg	p.R630Q		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	630	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CAGGGTGACCGGGGTTTCGAC	0.627000													14	57					0	0	1	0	0
SEMA6A	57556	broad.mit.edu	37	5	115803368	115803368	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:115803368C>T	ENST00000343348.6	-	18	2592	c.1805G>A	c.(1804-1806)gGa>gAa	p.G602E	SEMA6A_ENST00000282394.6_Intron|SEMA6A_ENST00000510263.1_Missense_Mutation_p.G602E|SEMA6A_ENST00000257414.8_Missense_Mutation_p.G619E|CTB-118N6.3_ENST00000508424.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000513137.1_Missense_Mutation_p.G29E	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	602					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GTCCAGCATTCCTCCCCTAGA	0.512000													5	18					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70974880	70974880	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:70974880G>T	ENST00000334414.6	-	10	2558	c.2514C>A	c.(2512-2514)tcC>tcA	p.S838S	PTPRB_ENST00000538708.1_Silent_p.S620S|PTPRB_ENST00000550358.1_Silent_p.S838S|PTPRB_ENST00000451516.2_Silent_p.S530S|PTPRB_ENST00000550857.1_Silent_p.S530S|PTPRB_ENST00000551525.1_Silent_p.S837S|PTPRB_ENST00000261266.5_Silent_p.S620S	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	620	Fibronectin type-III 10.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.S620S(2)|p.S838S(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TTACCACCACGGAGTACAGGC	0.458000													16	70					2.94398e-08	4.17445e-08	1	1	0
FCRL4	83417	broad.mit.edu	37	1	157559030	157559030	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:157559030G>T	ENST00000271532.1	-	3	406	c.271C>A	c.(271-273)Cca>Aca	p.P91T	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	91	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				TTACTTCGTGGGGAGCCCCGG	0.498000													31	91					1.88708e-17	3.38622e-17	1	1	0
DNAH10	196385	broad.mit.edu	37	12	124252183	124252183	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:124252183A>T	ENST00000409039.3	+	2	87	c.62A>T	c.(61-63)gAa>gTa	p.E21V		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	21	Poly-Glu.|Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GAAGAGGGAGAAGAGGAAGAA	0.448000													7	7					0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160049431	160049431	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:160049431C>A	ENST00000327245.5	-	14	2628	c.1782G>T	c.(1780-1782)atG>atT	p.M594I	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	594					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	p.N591fs*28(1)		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)			TTGTGGACACCATGACAGAGT	0.577000													9	26					5.68852e-11	8.89376e-11	1	1	0
OR5M8	219484	broad.mit.edu	37	11	56258724	56258724	+	Silent	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:56258724G>A	ENST00000327216.2	-	1	147	c.123C>T	c.(121-123)aaC>aaT	p.N41N		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TCATGCCAAGGTTCCCTGCCA	0.517000													41	61					0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47030766	47030766	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:47030766C>G	ENST00000450053.3	+	5	547	c.368C>G	c.(367-369)cCa>cGa	p.P123R	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.P123R	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	123							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GGATGCCCACCACCCCAGGGC	0.642000													4	16					0	0	1	0	0
LGI3	203190	broad.mit.edu	37	8	22009455	22009455	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:22009455G>C	ENST00000306317.2	-	6	842	c.553C>G	c.(553-555)Ctg>Gtg	p.L185V	LGI3_ENST00000424267.2_Missense_Mutation_p.L161V	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	185	LRRCT.				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		GTGTGTGCCAGCCACTCCACC	0.622000													18	26					0	0	1	0	0
PTPRR	5801	broad.mit.edu	37	12	71078507	71078507	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:71078507A>T	ENST00000283228.2	-	9	1788	c.1336T>A	c.(1336-1338)Tac>Aac	p.Y446N	PTPRR_ENST00000440835.2_Missense_Mutation_p.Y201N|PTPRR_ENST00000342084.4_Missense_Mutation_p.Y334N|PTPRR_ENST00000378778.1_Missense_Mutation_p.Y240N|PTPRR_ENST00000549308.1_Missense_Mutation_p.Y201N	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	446	Tyrosine-protein phosphatase.				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GCATTAATGTAGGTGCTCAAT	0.303000													4	20					0	0	1	0	0
TRBC2	28638	broad.mit.edu	37	7	142498901	142498901	+	RNA	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:142498901C>A	ENST00000466254.1	+	0	177																											CAGCACAGACCCGCAGCCCCT	0.652000													30	133					3.90053e-15	6.71478e-15	1	1	0
CCBL1	883	broad.mit.edu	37	9	131600383	131600383	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:131600383C>T	ENST00000436267.2	-	7	816	c.667G>A	c.(667-669)Gag>Aag	p.E223K	CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000320665.6_Missense_Mutation_p.E79K|CCBL1_ENST00000302586.3_Missense_Mutation_p.E129K			Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	129					kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	GTCATGGGCTCGTAGCAGTCA	0.537000													51	129					0	0	1	0	0
TLR2	7097	broad.mit.edu	37	4	154625063	154625063	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr4:154625063C>A	ENST00000260010.6	+	1	2412	c.1004C>A	c.(1003-1005)aCa>aAa	p.T335K		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	335					cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				TATTCACTTACAGAAAGAGTT	0.323000													10	21					0.000442599	0.00049728	1	1	0
COL22A1	169044	broad.mit.edu	37	8	139616995	139616995	+	Missense_Mutation	SNP	T	T	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:139616995T>G	ENST00000303045.6	-	59	4568	c.4122A>C	c.(4120-4122)aaA>aaC	p.K1374N	COL22A1_ENST00000435777.1_Missense_Mutation_p.K1354N|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1374	Collagen-like 13.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTGGGACTCCTTTCTCTCCTG	0.517000										HNSCC(7;0.00092)			3	18					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26743728	26743728	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr22:26743728G>C	ENST00000529632.2	+	11	2452	c.2256G>C	c.(2254-2256)caG>caC	p.Q752H	SEZ6L_ENST00000360929.3_Missense_Mutation_p.Q752H|SEZ6L_ENST00000404234.3_Missense_Mutation_p.Q752H|SEZ6L_ENST00000248933.6_Missense_Mutation_p.Q752H|SEZ6L_ENST00000343706.4_Missense_Mutation_p.Q752H|SEZ6L_ENST00000403121.1_Missense_Mutation_p.Q525H|SEZ6L_ENST00000411842.2_5'UTR|SEZ6L_ENST00000402979.1_Missense_Mutation_p.Q525H	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	752	Sushi 3.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CCGAGATCCAGAATGGCTGGA	0.532000													11	48					0	0	1	0	0
KIAA1147	57189	broad.mit.edu	37	7	141365039	141365039	+	Silent	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:141365039G>A	ENST00000536163.1	-	6	899	c.900C>T	c.(898-900)taC>taT	p.Y300Y	KIAA1147_ENST00000482493.1_Silent_p.Y196Y	NM_001080392.1	NP_001073861.1	A4D1U4	LCHN_HUMAN	KIAA1147	300										breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12	Melanoma(164;0.0171)					CCACGTTCACGTAGAAGAAAG	0.592000													9	31					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134071901	134071901	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr4:134071901C>A	ENST00000264360.4	+	1	1432	c.606C>A	c.(604-606)acC>acA	p.T202T		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	202	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ACGTGCTGACCGCGGTGGACg	0.697000													19	54					0.00074312	0.00082532	1	1	0
ELF1	1997	broad.mit.edu	37	13	41508027	41508027	+	Missense_Mutation	SNP	T	T	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr13:41508027T>C	ENST00000239882.3	-	9	1708	c.1394A>G	c.(1393-1395)aAg>aGg	p.K465R	ELF1_ENST00000442101.1_Missense_Mutation_p.K441R|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	465					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		TAAAATAAACTTCTGAGATCC	0.453000													20	61					0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20681177	20681177	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr16:20681177G>A	ENST00000307493.4	-	5	951	c.884C>T	c.(883-885)cCa>cTa	p.P295L	ACSM1_ENST00000520010.1_Missense_Mutation_p.P295L|ACSM1_ENST00000219151.4_5'UTR	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	295					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GTCAAACTGTGGCAGATGGTG	0.473000													9	26					0	0	1	0	0
CDC73	79577	broad.mit.edu	37	1	193117012	193117012	+	Missense_Mutation	SNP	A	A	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:193117012A>G	ENST00000367435.3	+	8	929	c.745A>G	c.(745-747)Att>Gtt	p.I249V		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	249					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						TTCCAAGAACATTTTTGCAAT	0.338000													3	16					0	0	1	0	0
ADSS	159	broad.mit.edu	37	1	244586218	244586218	+	Splice_Site	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:244586218C>T	ENST00000366535.3	-	7	898	c.581_splice	c.e7-1	p.R194_splice	ADSS_ENST00000462358.1_5'UTR	NM_001126.3	NP_001117.2	P30520	PURA2_HUMAN	adenylosuccinate synthase	194					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		L-Aspartic Acid(DB00128)	GAACTTTAAACCTGAGAAACA	0.313000													6	7					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189875589	189875589	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:189875589C>A	ENST00000304636.3	+	50	4397	c.4227C>A	c.(4225-4227)acC>acA	p.T1409T	COL3A1_ENST00000317840.5_Silent_p.T1106T	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1409	Fibrillar collagen NC1.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GCAAATTCACCTACACAGTTC	0.393000													16	24					8.60227e-14	1.44929e-13	1	1	0
KMT2B	9757	broad.mit.edu	37	19	36214652	36214652	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:36214652G>T	ENST00000222270.7	+	8	3078	c.3078G>T	c.(3076-3078)acG>acT	p.T1026T	KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Silent_p.T1026T	NM_014727.1	NP_055542.1																					TAGTGAAGACGCTGTTGCCCT	0.657000													7	9					0.0293803	0.0304134	1	1	0
PDE10A	10846	broad.mit.edu	37	6	165843834	165843834	+	Splice_Site	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:165843834C>A	ENST00000366882.1	-	10	869		c.e10-1		PDE10A_ENST00000539869.2_Splice_Site|PDE10A_ENST00000354448.4_Splice_Site			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A						platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	CTCTGCATACCTACCATATAA	0.323000													4	6					0.184627	0.186887	1	1	0
ZNF212	7988	broad.mit.edu	37	7	148947848	148947848	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:148947848A>T	ENST00000335870.2	+	3	619	c.491A>T	c.(490-492)gAg>gTg	p.E164V		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	164	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			TGGCAGAAGGAGCTCTACAGA	0.478000													23	68					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52287229	52287229	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:52287229G>C	ENST00000356297.4	-	18	3720	c.3620C>G	c.(3619-3621)cCt>cGt	p.P1207R	PXDNL_ENST00000543296.1_Missense_Mutation_p.P1207R	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1207					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TCTTGTACCAGGAATCAGGTC	0.483000													3	22					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10380004	10380004	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:10380004G>T	ENST00000397077.1	-	21	3716	c.3141C>A	c.(3139-3141)ctC>ctA	p.L1047L	ATP2B2_ENST00000383800.4_Silent_p.L1047L|ATP2B2_ENST00000360273.2_Silent_p.L1092L|ATP2B2_ENST00000352432.4_Silent_p.L1092L|ATP2B2_ENST00000343816.4_Silent_p.L1078L			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	1092					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CTGCCTCCTTGAGGAACTTGA	0.647000													14	45					4.3838e-07	5.84395e-07	1	1	0
ADAMTSL1	92949	broad.mit.edu	37	9	18795486	18795486	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:18795486G>T	ENST00000380548.4	+	20	4108	c.3769G>T	c.(3769-3771)Gga>Tga	p.G1257*	ADAMTSL1_ENST00000496521.2_3'UTR	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1257	Ig-like C2-type 2.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CAATGCCTTGGGATACGACTC	0.453000													4	6					0.150653	0.153301	1	1	0
NOTCH1	4851	broad.mit.edu	37	9	139391105	139391105	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:139391105C>A	ENST00000277541.6	-	34	7161	c.7086G>T	c.(7084-7086)atG>atT	p.M2362I		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2362					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGTAGCTCATCATCTGGGACA	0.657000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			19	94					5.3912e-06	6.75164e-06	1	1	0
TRAC	28755	broad.mit.edu	37	14	23021058	23021058	+	RNA	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr14:23021058C>A	ENST00000478163.3	+	0	935																											TGTTGTATGTCCTGCTGCCGA	0.453000													14	15					0.00185496	0.00202391	1	1	0
CLTC	1213	broad.mit.edu	37	17	57746155	57746155	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:57746155G>T	ENST00000269122.3	+	14	2420	c.2146G>T	c.(2146-2148)Gga>Tga	p.G716*	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Nonsense_Mutation_p.G716*	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	716	Heavy chain arm.|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TTATTTTCTGGGATCCATTGT	0.333000			T	"""ALK, TFE3"""	"""ALCL, renal """								4	10					0.150653	0.153301	1	1	0
ZNF517	340385	broad.mit.edu	37	8	146032602	146032602	+	Missense_Mutation	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:146032602G>C	ENST00000359971.3	+	5	408	c.301G>C	c.(301-303)Gag>Cag	p.E101Q	ZNF517_ENST00000531720.1_Missense_Mutation_p.E101Q|ZNF517_ENST00000526178.1_Intron|ZNF517_ENST00000525105.1_Intron	NM_213605.2	NP_998770.2	Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			TGGGATCATGGAGTCTCCTCT	0.587000													13	31					0	0	1	0	0
HDAC11	79885	broad.mit.edu	37	3	13543403	13543403	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:13543403G>T	ENST00000295757.3	+	7	705	c.522G>T	c.(520-522)agG>agT	p.R174S	HDAC11_ENST00000405025.1_Intron|HDAC11_ENST00000433119.1_Missense_Mutation_p.G132V|HDAC11_ENST00000404040.1_Intron|HDAC11_ENST00000404548.1_Intron|HDAC11_ENST00000446613.2_5'UTR|HDAC11_ENST00000437379.2_Missense_Mutation_p.R146S|HDAC11_ENST00000495099.2_3'UTR|HDAC11_ENST00000402271.1_Missense_Mutation_p.R95S|HDAC11_ENST00000522202.1_Missense_Mutation_p.R123S|HDAC11_ENST00000402259.1_Intron	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN	histone deacetylase 11	174	Histone deacetylase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						GCATCTCCAGGGCTACCATCA	0.602000													11	32					3.07112e-06	3.87684e-06	1	1	0
RIMS2	9699	broad.mit.edu	37	8	104831781	104831781	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:104831781C>A	ENST00000507740.1	+	1	282	c.46C>A	c.(46-48)Cat>Aat	p.H16N	RIMS2_ENST00000522174.1_Intron|RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000262231.10_Missense_Mutation_p.H16N	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1008					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGTTTTATCTCATTTTCATGG	0.353000										HNSCC(12;0.0054)			11	19					2.27111e-07	3.0652e-07	1	1	0
IRF6	3664	broad.mit.edu	37	1	209963869	209963869	+	Missense_Mutation	SNP	T	T	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:209963869T>G	ENST00000367021.3	-	7	1203	c.1031A>C	c.(1030-1032)aAg>aCg	p.K344T	IRF6_ENST00000542854.1_Missense_Mutation_p.K249T	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	344					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		ACAAAATAGCTTGACCTTCTT	0.468000										HNSCC(57;0.16)			8	67					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104930676	104930676	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:104930676C>T	ENST00000507740.1	+	7	1704	c.1468C>T	c.(1468-1470)Ccg>Tcg	p.P490S	RIMS2_ENST00000262231.10_Missense_Mutation_p.P537S|RIMS2_ENST00000436393.2_Missense_Mutation_p.P460S|RIMS2_ENST00000406091.3_Missense_Mutation_p.P682S	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	760					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CAGAGATATACCGCGAATACC	0.299000										HNSCC(12;0.0054)			3	9					0	0	1	0	0
NPFFR1	64106	broad.mit.edu	37	10	72020428	72020428	+	Silent	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:72020428G>A	ENST00000277942.5	-	3	397	c.390C>T	c.(388-390)tcC>tcT	p.S130S		NM_022146.4	NP_071429.1	Q9GZQ6	NPFF1_HUMAN	neuropeptide FF receptor 1	130						integral to membrane|plasma membrane	neuropeptide receptor activity			endometrium(2)|lung(1)	3						GTGTGAAAACGGAAGCCGACA	0.567000													3	17					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40342734	40342734	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:40342734G>T	ENST00000406785.1	-	8	2662	c.2473C>A	c.(2473-2475)Cag>Aag	p.Q825K	SLC8A1_ENST00000542756.1_Missense_Mutation_p.Q856K|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000332839.4_Missense_Mutation_p.Q861K|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000402441.1_Missense_Mutation_p.Q825K|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000406391.2_Missense_Mutation_p.Q825K|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000405901.3_Missense_Mutation_p.Q856K|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000403092.1_Missense_Mutation_p.Q861K|SLC8A1_ENST00000408028.2_Missense_Mutation_p.Q853K|SLC8A1_ENST00000405269.1_Missense_Mutation_p.Q825K|SLC8A1_ENST00000542024.1_Missense_Mutation_p.Q825K			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	861					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)	TCTGCATACTGGTCCTGGGTG	0.532000													29	41					1.08312e-15	1.8795e-15	1	1	0
GRID2	2895	broad.mit.edu	37	4	94159539	94159539	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr4:94159539G>T	ENST00000282020.4	+	8	1401	c.1143G>T	c.(1141-1143)ttG>ttT	p.L381F	GRID2_ENST00000510992.1_Missense_Mutation_p.L286F	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	381					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)	TTAGTGGGTTGACTGGAGAGC	0.383000													12	23					3.07112e-06	3.87684e-06	1	1	0
TSEN34	79042	broad.mit.edu	37	19	54697083	54697083	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:54697083G>T	ENST00000396383.1	+	5	1110	c.799G>T	c.(799-801)Gac>Tac	p.D267Y	TSEN34_ENST00000396388.2_Missense_Mutation_p.D267Y|TSEN34_ENST00000429671.2_Missense_Mutation_p.D267Y|TSEN34_ENST00000302937.4_Missense_Mutation_p.D267Y			Q9BSV6	SEN34_HUMAN	TSEN34 tRNA splicing endonuclease subunit	267					mRNA processing|tRNA-type intron splice site recognition and cleavage	nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	10	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGCCCCCGAGGACACCATCCC	0.617000													42	68					1.47197e-15	2.54916e-15	1	1	0
PNPLA7	375775	broad.mit.edu	37	9	140356630	140356630	+	Splice_Site	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:140356630C>A	ENST00000406427.1	-	31	3982		c.e31+1		PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000277531.4_Splice_Site|PNPLA7_ENST00000371457.1_Splice_Site	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7						lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CCGGCACTCACGCAGATCTCG	0.662000													21	19					2.4624e-09	3.64016e-09	1	1	0
HSD17B2	3294	broad.mit.edu	37	16	82131908	82131908	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr16:82131908C>T	ENST00000199936.4	+	5	1224	c.1031C>T	c.(1030-1032)gCt>gTt	p.A344V	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	344					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)	GGGAAAGGCGCTTACTTGTGG	0.493000													28	27					0	0	1	0	0
SATB2	23314	broad.mit.edu	37	2	200213476	200213476	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:200213476C>A	ENST00000443023.1	-	6	2409	c.944G>T	c.(943-945)aGg>aTg	p.R315M	SATB2_ENST00000417098.1_Missense_Mutation_p.R374M|SATB2_ENST00000457245.1_Missense_Mutation_p.R374M|SATB2_ENST00000260926.5_Missense_Mutation_p.R374M|SATB2_ENST00000428695.1_Missense_Mutation_p.R256M			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	374						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CACACTGGCCCTCTTCAGCTC	0.483000													28	75					2.65835e-16	4.6974e-16	1	1	0
FAT1	2195	broad.mit.edu	37	4	187530381	187530381	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr4:187530381C>A	ENST00000441802.2	-	16	10371	c.10162G>T	c.(10162-10164)Gtc>Ttc	p.V3388F		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3388	Cadherin 31.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCTCCCCTGACGGGGTCAATT	0.443000										HNSCC(5;0.00058)			14	10					1.5842e-08	2.27983e-08	1	1	0
GPX6	257202	broad.mit.edu	37	6	28472166	28472166	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:28472166G>T	ENST00000361902.1	-	5	618	c.569C>A	c.(568-570)cCc>cAc	p.P190H	GPX6_ENST00000474923.1_Missense_Mutation_p.P157T	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	190					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	GACTCCATCGGGCCCCACCAG	0.517000													5	47					0.0215528	0.0224443	1	1	0
COL4A1	1282	broad.mit.edu	37	13	110857862	110857862	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr13:110857862G>T	ENST00000375820.4	-	16	1003	c.882C>A	c.(880-882)gaC>gaA	p.D294E	COL4A1_ENST00000543140.1_Missense_Mutation_p.D294E	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	294	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)			TTTCCCCTTTGTCACCATCTT	0.463000													52	95					1.4374e-25	2.82439e-25	1	1	0
TRAV21	28662	broad.mit.edu	37	14	22520788	22520788	+	RNA	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr14:22520788C>A	ENST00000390449.3	+	0	16																											GAATGGAGACCCTCTTGGGCC	0.463000													7	7					8.12818e-05	9.53963e-05	1	1	0
RASA3	22821	broad.mit.edu	37	13	114751245	114751245	+	Missense_Mutation	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr13:114751245T>A	ENST00000334062.7	-	23	2391	c.2270A>T	c.(2269-2271)tAt>tTt	p.Y757F	RASA3_ENST00000389544.4_Missense_Mutation_p.Y725F	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	757					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			CGGGCCGTCATACACAGATTT	0.637000													52	26					0	0	1	0	0
PLSCR4	57088	broad.mit.edu	37	3	145914463	145914463	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:145914463C>G	ENST00000354952.2	-	7	982	c.742G>C	c.(742-744)Ggg>Cgg	p.G248R	PLSCR4_ENST00000446574.2_Missense_Mutation_p.G248R|PLSCR4_ENST00000383083.2_Missense_Mutation_p.G158R|PLSCR4_ENST00000493382.1_Missense_Mutation_p.G248R|PLSCR4_ENST00000433593.2_Missense_Mutation_p.G143R	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	248					blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						GAGCATGGCCCACGAACTCTC	0.423000													34	47					0	0	1	0	0
OR5D18	219438	broad.mit.edu	37	11	55587532	55587532	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:55587532G>T	ENST00000333976.4	+	1	447	c.427G>T	c.(427-429)Gtg>Ttg	p.V143L		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GAAACTCTGCGTGCTGCTGGT	0.468000													20	118					1.01871e-10	1.58416e-10	1	1	0
C2	717	broad.mit.edu	37	6	31895399	31895399	+	Translation_Start_Site	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:31895399C>A	ENST00000299367.5	+	0	146				C2_ENST00000469372.1_Intron|C2_ENST00000452323.2_Intron|C2_ENST00000442278.2_De_novo_Start_OutOfFrame	NM_000063.4	NP_000054.2			complement component 2											haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		GACCATCCCCCTTGCCACTCC	0.502000													54	84					4.86159e-25	9.46703e-25	1	1	0
MED1	5469	broad.mit.edu	37	17	37563814	37563814	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:37563814C>A	ENST00000300651.6	-	17	4883	c.4660G>T	c.(4660-4662)Gca>Tca	p.A1554S	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1554					androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GGTCTGTCTGCAGATAAGATT	0.438000										HNSCC(31;0.082)			16	30					3.45872e-05	4.1634e-05	1	1	0
DRD5	1816	broad.mit.edu	37	4	9784922	9784922	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr4:9784922G>T	ENST00000304374.2	+	1	1665	c.1269G>T	c.(1267-1269)cgG>cgT	p.R423R		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	423					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)	CCGGCAACCGGGAGGTGGACA	0.562000													47	37					6.68952e-21	1.26164e-20	1	1	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													6	30					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61512250	61512250	+	Silent	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr20:61512250C>T	ENST00000266070.4	-	16	5383	c.5058G>A	c.(5056-5058)ccG>ccA	p.P1686P	DIDO1_ENST00000395343.1_Silent_p.P1686P	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1686					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					ACGCGAACCCCGGGCAGGTGA	0.662000													15	53					0	0	1	0	0
ARHGAP4	393	broad.mit.edu	37	X	153178174	153178174	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chrX:153178174C>G	ENST00000370028.3	-	13	1699	c.1642G>C	c.(1642-1644)Gac>Cac	p.D548H	ARHGAP4_ENST00000350060.5_Missense_Mutation_p.D508H|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.D330H|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.D487H|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.D485H	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	508	Rho-GAP.				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTCTCCATGTCTCCCCCAAAG	0.557000													60	32					0	0	1	0	0
OR8U1	219417	broad.mit.edu	37	11	56143795	56143795	+	Missense_Mutation	SNP	G	G	T	rs78729591	by1000genomes	TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:56143795G>T	ENST00000302270.1	+	1	696	c.696G>T	c.(694-696)gaG>gaT	p.E232D		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1											NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					ATTCAGCTGAGGGAAGACAGA	0.468000													25	45					2.39556e-15	4.13628e-15	1	1	0
TFDP1	7027	broad.mit.edu	37	13	114292200	114292200	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr13:114292200G>T	ENST00000375370.5	+	11	1286	c.1074G>T	c.(1072-1074)agG>agT	p.R358S	TFDP1_ENST00000544902.1_Missense_Mutation_p.R329S|TFDP1_ENST00000538138.1_Splice_Site	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	358					cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			ACGGCACAAGGTTCTCTGCCA	0.587000										TSP Lung(29;0.18)			42	41					2.35958e-20	4.39292e-20	1	1	0
ZNF790	388536	broad.mit.edu	37	19	37314599	37314599	+	Silent	SNP	A	A	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:37314599A>G	ENST00000356725.4	-	3	223	c.103T>C	c.(103-105)Ttg>Ctg	p.L35L	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	35	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TAGTTCTCCAACATCACATCT	0.408000													4	30					0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4825704	4825704	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:4825704G>T	ENST00000380382.1	-	1	143	c.144C>A	c.(142-144)tcC>tcA	p.S48S	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAAGGCTTTTGGATGGGACTA	0.343000													10	28					9.70103e-10	1.45893e-09	1	1	0
MSLN	10232	broad.mit.edu	37	16	814909	814909	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr16:814909C>T	ENST00000566549.1	+	7	800	c.383C>T	c.(382-384)cCa>cTa	p.P128L	MSLN_ENST00000382862.3_Missense_Mutation_p.P128L|MSLN_ENST00000545450.2_Missense_Mutation_p.P128L|MSLN_ENST00000563941.1_Missense_Mutation_p.P128L			Q13421	MSLN_HUMAN	mesothelin	128					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				CTTCACAGCCCAGATGCGTTC	0.687000													3	21					0	0	1	0	0
KCNU1	157855	broad.mit.edu	37	8	36776409	36776409	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:36776409G>T	ENST00000399881.3	+	23	2627	c.2590G>T	c.(2590-2592)Gaa>Taa	p.E864*		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	864						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TATCCTTACTGAACTGAGTAA	0.363000													7	10					0.000157383	0.000181765	1	1	0
PCDHA3	56145	broad.mit.edu	37	5	140183121	140183121	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:140183121C>A	ENST00000522353.2	+	1	2339	c.2339C>A	c.(2338-2340)cCa>cAa	p.P780Q	PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.P780Q	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCCTTGTCCAATTAGCCGG	0.478000													24	103					1.22574e-08	1.77426e-08	1	1	0
PIK3R2	5296	broad.mit.edu	37	19	18274194	18274194	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:18274194C>T	ENST00000593731.1	+	11	1972	c.1412C>T	c.(1411-1413)tCc>tTc	p.S471F	PIK3R2_ENST00000222254.7_Missense_Mutation_p.S471F			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	471					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						ACACGGACCTCCCAGGTACTC	0.582000													10	53					0	0	1	0	0
SLC23A1	9963	broad.mit.edu	37	5	138718929	138718929	+	Missense_Mutation	SNP	T	T	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:138718929T>G	ENST00000353963.3	-	1	52	c.14A>C	c.(13-15)gAg>gCg	p.E5A	SLC23A1_ENST00000348729.3_Missense_Mutation_p.E5A|SLC23A1_ENST00000503919.1_5'UTR	NM_152685.3	NP_689898.2	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	5					brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	CTCGAGGTCCTCCTGGGCCCT	0.642000													6	13					0	0	1	0	0
XRRA1	143570	broad.mit.edu	37	11	74648054	74648054	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:74648054C>A	ENST00000340360.6	-	4	485	c.154G>T	c.(154-156)Gtt>Ttt	p.V52F	XRRA1_ENST00000533598.1_5'UTR|XRRA1_ENST00000527087.1_Missense_Mutation_p.V52F|XRRA1_ENST00000321448.8_5'UTR	NM_182969.2	NP_892014.1	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	52					response to X-ray	cytoplasm|nucleus				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						TGTGCTCCAACCAAACCCTTG	0.488000													24	20					6.44725e-10	9.76362e-10	1	1	0
CCNA1	8900	broad.mit.edu	37	13	37006764	37006764	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr13:37006764G>T	ENST00000418263.1	+	1	356	c.6G>T	c.(4-6)gaG>gaT	p.E2D	CCNA1_ENST00000449823.1_Intron|CCNA1_ENST00000440264.1_Intron|CCNA1_ENST00000463403.1_Intron|CCNA1_ENST00000255465.4_Missense_Mutation_p.E2D	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	2					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TTGGGATGGAGACCGGCTTTC	0.622000													9	6					3.86212e-05	4.60117e-05	1	1	0
MUC16	94025	broad.mit.edu	37	19	9048742	9048742	+	Silent	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:9048742A>T	ENST00000397910.4	-	5	33092	c.32889T>A	c.(32887-32889)ccT>ccA	p.P10963P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10965	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						TGGCCATTGAAGGTGTGGTCT	0.493000													24	74					0	0	1	0	0
CRHR1	1394	broad.mit.edu	37	17	43912172	43912172	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:43912172G>T	ENST00000339069.5	+	13	1482	c.851G>T	c.(850-852)gGg>gTg	p.G284V	CRHR1_ENST00000398285.3_3'UTR|CRHR1_ENST00000314537.5_3'UTR			P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	0					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		CTGTGGCTGGGGGGATGACGG	0.642000													33	40					5.91797e-21	1.11855e-20	1	1	0
HSD3B2	3284	broad.mit.edu	37	1	119964805	119964805	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:119964805C>A	ENST00000543831.1	+	4	930	c.681C>A	c.(679-681)aaC>aaA	p.N227K	HSD3B2_ENST00000369416.3_Missense_Mutation_p.N227K	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	227					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	ATGTTGGCAACGTGGCCTGGG	0.527000													24	109					1.22574e-08	1.77426e-08	1	1	0
LCP2	3937	broad.mit.edu	37	5	169694069	169694069	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:169694069G>T	ENST00000046794.5	-	9	1247	c.632C>A	c.(631-633)cCa>cAa	p.P211Q	LCP2_ENST00000521416.1_Missense_Mutation_p.P6Q	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	211					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)		GGTCTGGGGTGGGGGCAGTGG	0.537000													16	71					2.23348e-06	2.84843e-06	1	1	0
IQGAP2	10788	broad.mit.edu	37	5	75970390	75970390	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:75970390G>T	ENST00000274364.6	+	27	3680	c.3383G>T	c.(3382-3384)gGt>gTt	p.G1128V	IQGAP2_ENST00000396234.3_Missense_Mutation_p.G624V|IQGAP2_ENST00000379730.3_Missense_Mutation_p.G630V|IQGAP2_ENST00000502745.1_Missense_Mutation_p.G624V	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1128	Ras-GAP.				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)		ACAGCTGGAGGTCAGATAAAT	0.468000													8	14					5.18039e-06	6.50169e-06	1	1	0
CD2	914	broad.mit.edu	37	1	117311190	117311190	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:117311190C>A	ENST00000369478.3	+	5	949	c.841C>A	c.(841-843)Cat>Aat	p.H281N		NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	281					blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	AACTTCCCAACATCCTCCTCC	0.592000													20	85					2.94398e-08	4.17445e-08	1	1	0
MUC17	140453	broad.mit.edu	37	7	100676539	100676539	+	Silent	SNP	T	T	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:100676539T>A	ENST00000306151.4	+	3	1906	c.1842T>A	c.(1840-1842)gcT>gcA	p.A614A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	614	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)					CTACAACTGCTGAAGGTACCA	0.478000													76	365					0	0	1	0	0
BTK	695	broad.mit.edu	37	X	100611118	100611118	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chrX:100611118C>G	ENST00000308731.7	-	15	1651	c.1488G>C	c.(1486-1488)caG>caC	p.Q496H	BTK_ENST00000372880.1_Intron	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	496	Protein kinase.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CTAGCAGCTGCTGAGTCTGGA	0.547000									Agammaglobulinemia, X-linked				54	20					0	0	1	0	0
NSUN2	54888	broad.mit.edu	37	5	6616882	6616882	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:6616882C>T	ENST00000264670.6	-	9	1290	c.979G>A	c.(979-981)Gag>Aag	p.E327K	NSUN2_ENST00000506139.1_Missense_Mutation_p.E292K|NSUN2_ENST00000539938.1_Missense_Mutation_p.E91K	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	327						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						GCTTCATCCTCAATAGGGTTT	0.458000													56	27					0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28608040	28608040	+	Silent	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr13:28608040G>A	ENST00000380982.4	-	15	2007	c.1926C>T	c.(1924-1926)gcC>gcT	p.A642A	FLT3_ENST00000241453.7_Silent_p.A642A|FLT3_ENST00000537084.1_Silent_p.A642A			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	642	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	GCATTTTGACGGCAACCTGGA	0.443000			"""Mis, O"""		"""AML, ALL"""								8	32					0	0	1	0	0
SLC4A2	6522	broad.mit.edu	37	7	150761694	150761694	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:150761694A>T	ENST00000485713.1	+	4	1339	c.299A>T	c.(298-300)cAg>cTg	p.Q100L	SLC4A2_ENST00000392826.2_Missense_Mutation_p.Q91L|SLC4A2_ENST00000413384.2_Missense_Mutation_p.Q100L|SLC4A2_ENST00000461735.1_Missense_Mutation_p.Q86L|SLC4A2_ENST00000310317.5_Silent_p.P18P	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	100	Pro-rich.				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAGACACCCCAGGGCCCAGGA	0.682000													19	70					0	0	1	0	0
GALNT8	26290	broad.mit.edu	37	12	4854630	4854630	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:4854630G>T	ENST00000252318.2	+	5	1233	c.896G>T	c.(895-897)cGc>cTc	p.R299L		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	299						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						CAGGAGGACCGCACTGTGATT	0.483000													10	45					7.48243e-07	9.81645e-07	1	1	0
CLEC14A	161198	broad.mit.edu	37	14	38724658	38724658	+	Missense_Mutation	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr14:38724658C>G	ENST00000342213.2	-	1	916	c.570G>C	c.(568-570)ttG>ttC	p.L190F		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	190						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CGCGATAGCTCAAGTTAGAgg	0.657000													96	71					0	0	1	0	0
ADRA1B	147	broad.mit.edu	37	5	159344726	159344726	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:159344726G>T	ENST00000306675.3	+	1	937	c.814G>T	c.(814-816)Ggc>Tgc	p.G272C		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	272					cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)	CAAGGCCAAGGGCCACAACCC	0.498000													25	80					1.96895e-08	2.81024e-08	1	1	0
CDH24	64403	broad.mit.edu	37	14	23521746	23521746	+	Silent	SNP	T	T	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr14:23521746T>C	ENST00000397359.3	-	8	1558	c.1299A>G	c.(1297-1299)acA>acG	p.T433T	CDH24_ENST00000267383.5_Silent_p.T433T|CDH24_ENST00000487137.2_Silent_p.T433T|CDH24_ENST00000554034.1_Silent_p.T433T	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	433	Cadherin 4.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		GGGGTGCTGCTGTATGGATGG	0.632000													33	44					0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79423597	79423597	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr14:79423597A>T	ENST00000554719.1	+	8	1660	c.1169A>T	c.(1168-1170)gAg>gTg	p.E390V	NRXN3_ENST00000335750.5_Missense_Mutation_p.E390V	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	167					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AAAGGACCAGAGACCTTGTAT	0.478000													20	51					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1262564	1262564	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:1262564G>T	ENST00000447027.1	+	31	4521	c.4463G>T	c.(4462-4464)gGg>gTg	p.G1488V	MUC5B_ENST00000529681.1_Missense_Mutation_p.G1485V			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1485	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCGCAGACTGGGTCCAGCTCA	0.662000													8	19					0.27861	0.281037	1	1	0
TMEM207	131920	broad.mit.edu	37	3	190158129	190158129	+	Missense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:190158129C>T	ENST00000354905.2	-	4	274	c.208G>A	c.(208-210)Gtc>Atc	p.V70I		NM_207316.1	NP_997199.1	Q6UWW9	TM207_HUMAN	transmembrane protein 207	70						integral to membrane				endometrium(1)|large_intestine(2)|lung(4)	7	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;0.0176)		AGGCAGAGGACCACAGCTCCA	0.512000													7	42					0	0	1	0	0
MAP3K12	7786	broad.mit.edu	37	12	53877416	53877416	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:53877416C>A	ENST00000267079.2	-	10	1576	c.1351G>T	c.(1351-1353)Gaa>Taa	p.E451*	MAP3K12_ENST00000547488.1_Nonsense_Mutation_p.E484*|MAP3K12_ENST00000547035.1_Nonsense_Mutation_p.E484*	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	451	Leucine-zipper 2.				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						TCCTTGAGTTCCAGCTGCAAC	0.552000													74	76					2.36135e-34	4.77494e-34	1	1	0
ZNF382	84911	broad.mit.edu	37	19	37118440	37118440	+	Silent	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:37118440G>T	ENST00000435416.1	+	3	3133	c.1638G>T	c.(1636-1638)acG>acT	p.T546T	ZNF382_ENST00000439428.1_Silent_p.T546T|ZNF382_ENST00000423582.1_Silent_p.T498T|ZNF382_ENST00000292928.2_Silent_p.T547T			Q96SR6	ZN382_HUMAN	zinc finger protein 382	547	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TAGAAACCACGGGAATTCAGT	0.368000													6	20					0.0215528	0.0224443	1	1	0
APBA2	321	broad.mit.edu	37	15	29346286	29346286	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr15:29346286A>T	ENST00000558402.1	+	5	798	c.199A>T	c.(199-201)Agc>Tgc	p.S67C	APBA2_ENST00000558259.1_Missense_Mutation_p.S67C|APBA2_ENST00000561069.1_Missense_Mutation_p.S67C|APBA2_ENST00000411764.1_Missense_Mutation_p.S67C|APBA2_ENST00000558330.1_Missense_Mutation_p.S67C			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	67					nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CCACAACCACAGCCCCGATGG	0.642000													31	68					0	0	1	0	0
MCU	90550	broad.mit.edu	37	10	74631226	74631226	+	Missense_Mutation	SNP	T	T	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:74631226T>G	ENST00000536019.1	+	6	1047	c.602T>G	c.(601-603)tTg>tGg	p.L201W	MCU_ENST00000373053.3_Missense_Mutation_p.L250W|MCU_ENST00000357157.6_Missense_Mutation_p.L229W|MCU_ENST00000605416.1_3'UTR	NM_001270680.1	NP_001257609.1	Q8NE86	MCU_HUMAN	mitochondrial calcium uniporter	250					elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						TTTGGCATTTTGGCCCGGCTT	0.473000													46	63					0	0	1	0	0
ZNF449	203523	broad.mit.edu	37	X	134483124	134483124	+	Silent	SNP	C	C	G			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chrX:134483124C>G	ENST00000339249.4	+	3	584	c.444C>G	c.(442-444)ctC>ctG	p.L148L		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	148					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CACCTGCACTCCAGGTAATGG	0.562000													34	78					0	0	1	0	0
TBATA	219793	broad.mit.edu	37	10	72536983	72536983	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:72536983G>A	ENST00000299290.1	-	7	1005	c.616C>T	c.(616-618)Cag>Tag	p.Q206*	TBATA_ENST00000456372.2_Nonsense_Mutation_p.Q206*	NM_152710.2	NP_689923.2			thymus, brain and testes associated																		TGCTGGCCCTGGTGAGATCTG	0.637000													25	37					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13768118	13768118	+	Silent	SNP	G	G	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:13768118G>C	ENST00000279593.3	-	7	1793	c.1584C>G	c.(1582-1584)ccC>ccG	p.P528P		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	528					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCTCTATGAAGGGCACAGAGA	0.517000													14	59					0	0	1	0	0
HSPH1	10808	broad.mit.edu	37	13	31735660	31735660	+	Silent	SNP	G	G	T	rs145247962		TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr13:31735660G>T	ENST00000320027.5	-	1	404	c.60C>A	c.(58-60)gcC>gcA	p.A20A	HSPH1_ENST00000445273.2_Intron|HSPH1_ENST00000429785.2_Intron|HSPH1_ENST00000380406.5_Silent_p.A20A|HSPH1_ENST00000380405.4_Silent_p.A20A	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	20					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		CGATGCCCCCGGCCCGGGCTA	0.682000													13	30					1.5739e-10	2.43659e-10	1	1	0
WDR7	23335	broad.mit.edu	37	18	54694338	54694338	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr18:54694338G>T	ENST00000254442.3	+	28	4584	c.4373G>T	c.(4372-4374)gGc>gTc	p.G1458V	WDR7_ENST00000357574.3_Missense_Mutation_p.G1425V|WDR7_ENST00000589935.1_Missense_Mutation_p.G35V	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1458										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GCGTCCCCCGGCTCCCACAAT	0.612000													13	23					2.27111e-07	3.0652e-07	1	1	0
C7orf66	154907	broad.mit.edu	37	7	108524275	108524275	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:108524275G>T	ENST00000379007.2	-	2	191	c.137C>A	c.(136-138)tCa>tAa	p.S46*		NM_001024607.1	NP_001019778.1	A4D0T2	CG066_HUMAN	chromosome 7 open reading frame 66	46						integral to membrane				breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						GAGAAGGCATGACATTTGTGG	0.443000													7	21					0.00198382	0.00215368	1	1	0
ASTN2	23245	broad.mit.edu	37	9	119858357	119858357	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:119858357G>T	ENST00000313400.4	-	5	1342	c.1242C>A	c.(1240-1242)taC>taA	p.Y414*	ASTN2_ENST00000373996.3_Nonsense_Mutation_p.Y414*|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Nonsense_Mutation_p.Y363*			O75129	ASTN2_HUMAN	astrotactin 2	414						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						ACTGCTCCGTGTAGAATGTCA	0.502000													10	49					0.000442599	0.00049728	1	1	0
ZNF236	7776	broad.mit.edu	37	18	74617120	74617120	+	Silent	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr18:74617120A>T	ENST00000253159.8	+	13	2238	c.2040A>T	c.(2038-2040)acA>acT	p.T680T	ZNF236_ENST00000320610.9_Silent_p.T682T	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	680					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GATCCCATACAGGTGAAAAAC	0.353000													6	7					0	0	1	0	0
CAPN15	6650	broad.mit.edu	37	16	599730	599730	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr16:599730G>T	ENST00000219611.2	+	7	2321	c.1958G>T	c.(1957-1959)gGc>gTc	p.G653V	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1			calpain 15																		ACGCTCACCGGCGCCCCCTGT	0.662000													4	12					0.150653	0.153301	1	1	0
KCNA1	3736	broad.mit.edu	37	12	5021007	5021007	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:5021007C>A	ENST00000382545.3	+	2	1570	c.463C>A	c.(463-465)Ctg>Atg	p.L155M	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	155					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CCAGGTGTGGCTGCTCTTCGA	0.627000													25	121					2.27525e-19	4.191e-19	1	1	0
GATM	2628	broad.mit.edu	37	15	45661525	45661525	+	Splice_Site	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr15:45661525C>A	ENST00000396659.3	-	3	822	c.484_splice	c.e3+1	p.T161_splice	GATM_ENST00000558336.1_Splice_Site_p.T161_splice	NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	161					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	ATCACTTACCCGTAGACTCAA	0.378000													4	18					1	1	1	1	0
BTBD11	121551	broad.mit.edu	37	12	108006582	108006582	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:108006582G>T	ENST00000280758.5	+	6	2363	c.1835G>T	c.(1834-1836)tGc>tTc	p.C612F	RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000420571.2_Missense_Mutation_p.C612F|BTBD11_ENST00000490090.2_Missense_Mutation_p.C612F|BTBD11_ENST00000357167.4_Missense_Mutation_p.C149F	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	612						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						ATGTATGCCTGCGTCCGTGGG	0.572000													9	20					0.000274275	0.000310774	1	1	0
UGT3A1	133688	broad.mit.edu	37	5	35957513	35957513	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:35957513G>T	ENST00000274278.3	-	5	1209	c.852C>A	c.(850-852)gaC>gaA	p.D284E	UGT3A1_ENST00000503189.1_Missense_Mutation_p.D284E|UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000507113.1_Missense_Mutation_p.D250E	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	284						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAATGAAGTTGTCCAAGTCCT	0.458000													8	50					0.000157383	0.000181765	1	1	0
TPM4	7171	broad.mit.edu	37	19	16178526	16178526	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:16178526C>A	ENST00000538887.1	+	1	179	c.92C>A	c.(91-93)gCc>gAc	p.A31D	TPM4_ENST00000344824.6_Missense_Mutation_p.A31D			P67936	TPM4_HUMAN	tropomyosin 4	152					cellular component movement|muscle filament sliding|response to oxidative stress	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding|calcium ion binding|structural constituent of muscle		TPM4/ALK(12)	breast(1)|large_intestine(3)	4						GATAAGAAAGCCGCTGAGGAC	0.632000			T	ALK	ALCL								8	46					0.0381472	0.039418	1	1	0
RBFOX1	54715	broad.mit.edu	37	16	7629897	7629897	+	Missense_Mutation	SNP	A	A	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr16:7629897A>T	ENST00000340209.4	+	3	701	c.404A>T	c.(403-405)gAt>gTt	p.D135V	RBFOX1_ENST00000553186.1_Missense_Mutation_p.D130V|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000547372.1_Missense_Mutation_p.D173V|RBFOX1_ENST00000547338.1_Missense_Mutation_p.D130V|RBFOX1_ENST00000355637.4_Missense_Mutation_p.D150V|RBFOX1_ENST00000311745.5_Missense_Mutation_p.D150V|RBFOX1_ENST00000422070.4_Missense_Mutation_p.D173V|RBFOX1_ENST00000550418.1_Missense_Mutation_p.D130V|RBFOX1_ENST00000436368.2_Missense_Mutation_p.D150V|RBFOX1_ENST00000552089.1_Missense_Mutation_p.D165V			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	130	RRM.				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						AGGTTCCGGGATCCGGACCTC	0.547000													14	48					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124392822	124392822	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:124392822C>A	ENST00000368909.3	+	49	6232	c.6126C>A	c.(6124-6126)aaC>aaA	p.N2042K	DMBT1_ENST00000368956.2_Missense_Mutation_p.N1414K|DMBT1_ENST00000368955.3_Missense_Mutation_p.N2032K|DMBT1_ENST00000344338.3_Missense_Mutation_p.N2032K|DMBT1_ENST00000338354.3_Missense_Mutation_p.N2042K|DMBT1_ENST00000330163.4_Missense_Mutation_p.N1414K|DMBT1_ENST00000359586.6_Missense_Mutation_p.N762K	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2042	CUB 2.				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)				AGGTGCAAAACAACTACCGTG	0.507000													40	27					4.14481e-20	7.70003e-20	1	1	0
PLEKHO1	51177	broad.mit.edu	37	1	150131101	150131101	+	Missense_Mutation	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:150131101G>A	ENST00000369124.4	+	6	891	c.613G>A	c.(613-615)Gag>Aag	p.E205K	PLEKHO1_ENST00000369126.1_Missense_Mutation_p.E22K|PLEKHO1_ENST00000479194.1_3'UTR|PLEKHO1_ENST00000025469.6_Missense_Mutation_p.E171K	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	205	Interaction with ATM, CKIP, IFP35 and NMI.					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTCTTGTGCTGAGAGCTTTCG	0.617000													130	74					0	0	1	0	0
CP	1356	broad.mit.edu	37	3	148930365	148930365	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:148930365C>A	ENST00000264613.6	-	2	529	c.267G>T	c.(265-267)tgG>tgT	p.W89C		NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	89	F5/8 type A 1.|Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	AAAACCCAAGCCAGACCGGTT	0.393000													6	12					0.0293803	0.0304134	1	1	0
FAM135B	51059	broad.mit.edu	37	8	139164585	139164585	+	Silent	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:139164585C>A	ENST00000395297.1	-	13	2303	c.2133G>T	c.(2131-2133)cgG>cgT	p.R711R		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	711										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GCAAGACTTCCCGATCACTGG	0.552000										HNSCC(54;0.14)			14	131					1.5842e-08	2.27983e-08	1	1	0
ZBTB4	57659	broad.mit.edu	37	17	7369684	7369684	+	Missense_Mutation	SNP	G	G	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:7369684G>T	ENST00000311403.4	-	3	776	c.437C>A	c.(436-438)gCc>gAc	p.A146D	ZBTB4_ENST00000380599.4_Missense_Mutation_p.A146D	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	146	BTB.				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)		TGCGAGCCGGGCGCTGTAGAT	0.657000													10	30					6.40141e-05	7.56927e-05	1	1	0
SLC5A6	8884	broad.mit.edu	37	2	27430330	27430330	+	Silent	SNP	G	G	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:27430330G>A	ENST00000310574.3	-	3	662	c.189C>T	c.(187-189)gaC>gaT	p.D63D	SLC5A6_ENST00000408041.1_Silent_p.D63D	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	63					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	CCATTTTGCGGTCCGCCATCA	0.607000													17	59					0	0	1	0	0
GABRG2	2566	broad.mit.edu	37	5	161524722	161524722	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:161524722C>T	ENST00000356592.3	+	4	866	c.406C>T	c.(406-408)Cga>Tga	p.R136*	GABRG2_ENST00000414552.2_Nonsense_Mutation_p.R136*|GABRG2_ENST00000361925.4_Nonsense_Mutation_p.R136*|GABRG2_ENST00000393933.4_Nonsense_Mutation_p.R41*	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	136					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	p.R136R(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		TAAAGTCCTCCGATTGAACAG	0.383000													15	18					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34003189	34003189	+	Missense_Mutation	SNP	C	C	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:34003189C>A	ENST00000373381.4	-	61	9828	c.9652G>T	c.(9652-9654)Ggt>Tgt	p.G3218C		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3194	Sushi 26.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GACGGGACACCAGGATCCCCG	0.587000													24	49					2.21704e-12	3.59906e-12	1	1	0
AKR7L	246181	broad.mit.edu	37	1	19600479	19600501	+	RNA	DEL	TGCGGCGCTGGTGGGCGCGTCCA	TGCGGCGCTGGTGGGCGCGTCCA	-			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:19600479_19600501delTGCGGCGCTGGTGGGCGCGTCCA	ENST00000420396.2	-	0	67_89				AKR7L_ENST00000429712.1_RNA					aldo-keto reductase family 7-like											breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						CGCGCGTGACTGCGGCGCTGGTGGGCGCGTCCATGCGGCGCCC	0.722													5	6	---	---	---	---					
LOC101928372	101928372	broad.mit.edu	37	1	160905270	160905270	+	RNA	DEL	A	A	-	rs80321913		TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:160905270delA	ENST00000356006.3	+	0	629																											aaaacaaaacaaaaaaaaaaa	0.502													3	2	---	---	---	---					
FMO1	2326	broad.mit.edu	37	1	171251409	171251409	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:171251409delC	ENST00000354841.4	+	6	1251	c.1120delC	c.(1120-1122)ccfs	p.P374fs	FMO1_ENST00000367750.3_Frame_Shift_Del_p.P374fs|FMO1_ENST00000402921.2_Frame_Shift_Del_p.P311fs|FMO1_ENST00000469112.1_3'UTR			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	374					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CCTCATCAAACCCTTGGGCTC	0.478													8	35	---	---	---	---					
CRB1	23418	broad.mit.edu	37	1	197407705	197407706	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:197407705_197407706insT	ENST00000367397.1	+	6	2779_2780	c.1921_1922insT	c.(1921-1923)gaafs	p.E641fs	RP11-75C23.1_ENST00000422250.1_RNA|CRB1_ENST00000367400.3_Frame_Shift_Ins_p.E1260fs|CRB1_ENST00000544212.1_Frame_Shift_Ins_p.E741fs|CRB1_ENST00000538660.1_Frame_Shift_Ins_p.E724fs|CRB1_ENST00000535699.1_Frame_Shift_Ins_p.E1236fs|CRB1_ENST00000367399.2_Frame_Shift_Ins_p.E1148fs			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1260	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			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						AACAGTCTGTGGGAATGAGAAG	0.416													9	22	---	---	---	---					
ADIPOR1	51094	broad.mit.edu	37	1	202917477	202917478	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:202917477_202917478insA	ENST00000340990.5	-	3	510_511	c.212_213insT	c.(211-213)ccafs	p.P71fs	ADIPOR1_ENST00000367254.3_Frame_Shift_Ins_p.P71fs|ADIPOR1_ENST00000436244.1_Frame_Shift_Ins_p.P71fs	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	71					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity	p.L71R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			GGTGGGCTTGCAGGGGAAGTGT	0.554													24	70	---	---	---	---					
PCNXL2	80003	broad.mit.edu	37	1	233334745	233334745	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr1:233334745delA	ENST00000258229.8	-	15	3240	c.3006delT	c.(3004-3006)agfs	p.S1002fs	PCNXL2_ENST00000488780.2_Frame_Shift_Del_p.S135fs	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1002						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TCCGGGCCACACTGTAAACAG	0.512													6	13	---	---	---	---					
ASAP2	8853	broad.mit.edu	37	2	9484734	9484734	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:9484734delG	ENST00000281419.3	+	10	1263	c.923delG	c.(922-924)cgfs	p.R308fs	ASAP2_ENST00000315273.4_Frame_Shift_Del_p.R308fs	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	308	PH.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						GGGACCGAGCGGAACGGCAGC	0.458													20	24	---	---	---	---					
SPEG	10290	broad.mit.edu	37	2	220354210	220354210	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr2:220354210delC	ENST00000312358.7	+	36	8602	c.8470delC	c.(8470-8472)ccfs	p.P2825fs	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2825	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)		CCCCTCATCTCCCCCCACACC	0.692													24	86	---	---	---	---					
C3orf35	339883	broad.mit.edu	37	3	37458962	37458962	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:37458962delC	ENST00000328376.5	+	5	1184	c.205delC	c.(205-207)ccfs	p.P69fs	C3orf35_ENST00000425564.2_Frame_Shift_Del_p.P69fs|C3orf35_ENST00000481400.1_Intron|C3orf35_ENST00000426078.1_Frame_Shift_Del_p.P69fs|C3orf35_ENST00000425932.1_Frame_Shift_Del_p.P69fs|C3orf35_ENST00000452017.2_Frame_Shift_Del_p.P69fs	NM_178339.2	NP_848029.2	Q8IVJ8	APRG1_HUMAN	chromosome 3 open reading frame 35	69						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	11						CAACATCTTTCCCCTGGACCT	0.443													12	37	---	---	---	---					
BSN	8927	broad.mit.edu	37	3	49680427	49680427	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:49680427delA	ENST00000296452.4	+	3	1474	c.1360delA	c.(1360-1362)agfs	p.K454fs		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	454					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)		GGCTGCTGCCAAGCCAAAGAC	0.587													11	42	---	---	---	---					
NISCH	11188	broad.mit.edu	37	3	52526147	52526147	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:52526147delC	ENST00000345716.4	+	21	4298	c.4164delC	c.(4162-4164)gtfs	p.V1388fs	NISCH_ENST00000479054.1_Frame_Shift_Del_p.V1388fs	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN	nischarin	1388					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		AGGACTGTGTCCACTACCCAC	0.667													25	108	---	---	---	---					
C3orf56	285311	broad.mit.edu	37	3	126916118	126916118	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:126916118delG	ENST00000398112.1	+	2	830	c.590delG	c.(589-591)tgfs	p.W197fs		NM_001007534.2	NP_001007535.1			chromosome 3 open reading frame 56											breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		TTCGGTATTTGGGCACCTTTG	0.637													8	70	---	---	---	---					
SLC9A9	285195	broad.mit.edu	37	3	143212599	143212600	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:143212599_143212600insT	ENST00000316549.6	-	11	1418_1419	c.1210_1211insA	c.(1210-1212)tttfs	p.F404fs		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	404					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						GGCAACAAAAATTGCTAGCTGT	0.426													11	13	---	---	---	---					
PLCH1	23007	broad.mit.edu	37	3	155200424	155200424	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr3:155200424delC	ENST00000460012.1	-	23	3658	c.3301delG	c.(3301-3303)aafs	p.E1101fs	PLCH1_ENST00000334686.6_Frame_Shift_Del_p.E1101fs|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Frame_Shift_Del_p.E1101fs|PLCH1_ENST00000340059.7_Frame_Shift_Del_p.E1139fs|PLCH1_ENST00000494598.1_Intron			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1139					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CTATTACCTTCCAGGTTCTTA	0.443													21	48	---	---	---	---					
MAD2L1	4085	broad.mit.edu	37	4	120986894	120986900	+	Frame_Shift_Del	DEL	GAGTCCG	GAGTCCG	-			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr4:120986894_120986900delGAGTCCG	ENST00000296509.5	-	2	486_492	c.147_153delCGGACTC	c.(145-153)tafs	p.YGL49fs		NM_002358.3	NP_002349.1	Q13257	MD2L1_HUMAN	MAD2 mitotic arrest deficient-like 1 (yeast)	49	HORMA.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of apoptosis|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of mitotic cell cycle spindle assembly checkpoint	condensed chromosome kinetochore|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity			breast(2)|kidney(2)|large_intestine(2)|lung(3)	9						CAAGCAAGGTGAGTCCGTATTTCTGCA	0.367													9	18	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127599141	127599141	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:127599141delG	ENST00000508053.1	-	69	9142	c.8168delC	c.(8167-8169)ctfs	p.P2723fs	FBN2_ENST00000262464.4_Frame_Shift_Del_p.P2723fs			P35556	FBN2_HUMAN	fibrillin 2	2723	EGF-like 47; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GTAATACCCAGGGGGGCAGCC	0.592													33	139	---	---	---	---					
PCDHAC2	56134	broad.mit.edu	37	5	140347312	140347312	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:140347312delG	ENST00000289269.5	+	1	1493	c.961delG	c.(961-963)ggfs	p.G322fs	PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000289272.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		322	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGAGTAATTGGGGGGCTGGA	0.587													28	31	---	---	---	---					
NKX2-5	1482	broad.mit.edu	37	5	172659680	172659681	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr5:172659680_172659681insT	ENST00000329198.4	-	2	1139_1140	c.866_867insA	c.(865-867)aaafs	p.K289fs		NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	P52952	NKX25_HUMAN	NK2 homeobox 5	289					adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CGAAGTTGTTGTTGGCGGCGGC	0.668													12	33	---	---	---	---					
OR11A1	26531	broad.mit.edu	37	6	29394746	29394746	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:29394746delC	ENST00000377149.1	-	5	1145	c.673delG	c.(673-675)cafs	p.A225fs	OR11A1_ENST00000377148.1_Frame_Shift_Del_p.A225fs|OR11A1_ENST00000377147.2_Frame_Shift_Del_p.A225fs|OR5V1_ENST00000377154.1_Intron			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						CTCAGCACTGCCACCACAATT	0.507													18	51	---	---	---	---					
BRD2	6046	broad.mit.edu	37	6	32942466	32942468	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:32942466_32942468delTGA	ENST00000395289.2	+	3	1858_1860	c.257_259delTGA	c.(256-261)gtg>g	p.VM86del	BRD2_ENST00000374825.4_In_Frame_Del_p.VM86del|BRD2_ENST00000374831.4_In_Frame_Del_p.VM86del|BRD2_ENST00000443797.2_5'UTR|BRD2_ENST00000449085.2_In_Frame_Del_p.VM39del|BRD2_ENST00000395287.1_In_Frame_Del_p.VM86del			P25440	BRD2_HUMAN	bromodomain containing 2	86					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						CACAAGGTAGTGATGAAGGCTCT	0.552													16	74	---	---	---	---					
RAET1G	353091	broad.mit.edu	37	6	150240884	150240884	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:150240884delC	ENST00000367360.2	-	2	221	c.154delG	c.(154-156)ttfs	p.V52fs	RAET1G_ENST00000479265.1_Frame_Shift_Del_p.V52fs	NM_001001788.2	NP_001001788.2	Q6H3X3	RET1G_HUMAN	retinoic acid early transcript 1G	52	MHC class I alpha-1 like.				antigen processing and presentation|immune response	integral to membrane|MHC class I protein complex	protein binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)		TGGCCTTGAACCGCACACCAC	0.532													7	144	---	---	---	---					
RAET1L	154064	broad.mit.edu	37	6	150343311	150343311	+	Frame_Shift_Del	DEL	C	C	-	rs145336297	byFrequency	TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr6:150343311delC	ENST00000367341.1	-	2	153	c.154delG	c.(154-156)ttfs	p.V52fs	RAET1L_ENST00000286380.2_Frame_Shift_Del_p.V52fs			Q5VY80	RET1L_HUMAN	retinoic acid early transcript 1L	52	MHC class I alpha-1 like (By similarity).				antigen processing and presentation|immune response	anchored to membrane|MHC class I protein complex				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.4e-12)		TGGCCTTGAACCGCACACCAC	0.522													25	26	---	---	---	---					
IQCE	23288	broad.mit.edu	37	7	2645600	2645601	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:2645600_2645601insT	ENST00000402050.2	+	20	2018_2019	c.1834_1835insT	c.(1834-1836)gcgfs	p.A612fs	IQCE_ENST00000404984.1_Frame_Shift_Ins_p.A561fs|IQCE_ENST00000438376.2_Frame_Shift_Ins_p.A596fs|IQCE_ENST00000325979.7_Frame_Shift_Ins_p.A547fs	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	612	IQ 2.									breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		CCAGTCCGCTCTGCGGGCACAC	0.703													51	39	---	---	---	---					
TRPV6	55503	broad.mit.edu	37	7	142570177	142570178	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:142570177_142570178insA	ENST00000359396.3	-	14	2087_2088	c.1842_1843insT	c.(1840-1845)ccgctcfs	p.L615fs		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	615					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					ATCCCGGAGCGAGGCCACAGGC	0.629													14	31	---	---	---	---					
ZNF786	136051	broad.mit.edu	37	7	148768127	148768127	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr7:148768127delC	ENST00000316286.9	-	3	1751	c.1479delG	c.(1477-1479)aafs	p.K493fs	ZNF786_ENST00000491431.1_Frame_Shift_Del_p.K579fs|ZNF786_ENST00000451334.3_Frame_Shift_Del_p.K542fs			Q8N393	ZN786_HUMAN	zinc finger protein 786	579					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GCTCCGTGAGCTTGGATTGTC	0.637													11	54	---	---	---	---					
RP1L1	94137	broad.mit.edu	37	8	10470544	10470545	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:10470544_10470545insC	ENST00000382483.3	-	4	1286_1287	c.1063_1064insG	c.(1063-1065)agafs	p.R355fs		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	355					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AACGGGGTCTTCCCCACTGGCT	0.683													22	51	---	---	---	---					
DLC1	10395	broad.mit.edu	37	8	13356906	13356906	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:13356906delC	ENST00000276297.4	-	2	1084	c.675delG	c.(673-675)ttfs	p.L226fs	DLC1_ENST00000316609.5_Frame_Shift_Del_p.L226fs|DLC1_ENST00000511869.1_Frame_Shift_Del_p.L226fs	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	226					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CAGAGTTAAGCAATTGTTTCT	0.383													14	36	---	---	---	---					
DOK2	9046	broad.mit.edu	37	8	21768189	21768189	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:21768189delC	ENST00000276420.4	-	4	871	c.613delG	c.(613-615)acfs	p.D205fs	DOK2_ENST00000544659.1_Frame_Shift_Del_p.D51fs	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	205	IRS-type PTB.				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		CTCACCTTGTCCCGCCCAAAG	0.632													7	11	---	---	---	---					
LOC101929415	101929415	broad.mit.edu	37	8	57390255	57390255	+	RNA	DEL	T	T	-			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr8:57390255delT	ENST00000518662.1	+	0	694																											TCAGGGTAGGTAAAGAGAGAA	0.423													25	20	---	---	---	---					
ABCA2	20	broad.mit.edu	37	9	139908337	139908337	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr9:139908337delG	ENST00000265662.5	-	28	4541	c.4394delC	c.(4393-4395)cafs	p.P1465fs	ABCA2_ENST00000341511.6_Frame_Shift_Del_p.P1465fs|ABCA2_ENST00000371605.3_Frame_Shift_Del_p.P1464fs			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1464					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GAAGAAGGCTGGCAGCAAGAT	0.672													13	20	---	---	---	---					
MCU	90550	broad.mit.edu	37	10	74451958	74451960	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:74451958_74451960delGGC	ENST00000373053.3	+	1	70_72	c.49_51delGGC	c.(49-51)del	p.G22del	MCU_ENST00000357157.6_In_Frame_Del_p.G22del	NM_138357.1	NP_612366.1	Q8NE86	MCU_HUMAN	mitochondrial calcium uniporter	22					elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						CTCCTCTCGGggcggcggcggcg	0.768													2	4	---	---	---	---					
LRIT2	340745	broad.mit.edu	37	10	85984683	85984683	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:85984683delC	ENST00000372113.4	-	2	303	c.298delG	c.(298-300)aafs	p.E100fs	LRIT2_ENST00000538192.1_Frame_Shift_Del_p.E100fs	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	100						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						GGCAGGTGTTCCAGGGCTCCT	0.522													47	62	---	---	---	---					
PDE6C	5146	broad.mit.edu	37	10	95372681	95372681	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:95372681delT	ENST00000371447.3	+	1	337	c.199delT	c.(199-201)ggfs	p.W67fs		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	67					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				GGAGCTGCTGTGGACCGTGCA	0.637													32	40	---	---	---	---					
TTC40	54777	broad.mit.edu	37	10	134751117	134751117	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr10:134751117delG	ENST00000368586.5	-	6	699	c.599delC	c.(598-600)agfs	p.T200fs	TTC40_ENST00000368582.2_Frame_Shift_Del_p.T200fs|TTC40_ENST00000368585.3_Frame_Shift_Del_p.T200fs	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	0										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CGGAGCTGCCGTGGAGCAGAA	0.463													16	114	---	---	---	---					
ZDHHC5	25921	broad.mit.edu	37	11	57466733	57466733	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:57466733delG	ENST00000287169.3	+	11	3187	c.1825delG	c.(1825-1827)gcfs	p.G609fs	ZDHHC5_ENST00000527985.1_Frame_Shift_Del_p.G556fs	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	609						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						CCCCCGTTTTGGCAAGCCAGA	0.597													36	128	---	---	---	---					
MRGPRF	116535	broad.mit.edu	37	11	68777337	68777337	+	Frame_Shift_Del	DEL	G	G	-	rs140713582	byFrequency	TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr11:68777337delG	ENST00000309099.6	-	2	415	c.33delC	c.(31-33)ccfs	p.P11fs	MRGPRF_ENST00000320913.6_Frame_Shift_Del_p.P11fs|MRGPRF_ENST00000441623.1_Frame_Shift_Del_p.P11fs	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F	11						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TCCTGTTGCCGGGATGGGCCT	0.677													16	65	---	---	---	---					
EPS8	2059	broad.mit.edu	37	12	15813567	15813568	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:15813567_15813568insC	ENST00000281172.5	-	10	1353_1354	c.917_918insG	c.(916-918)gaafs	p.E306fs	EPS8_ENST00000540613.1_Frame_Shift_Ins_p.E46fs|EPS8_ENST00000542903.1_Frame_Shift_Ins_p.E46fs|EPS8_ENST00000543523.1_Frame_Shift_Ins_p.E306fs|EPS8_ENST00000543612.1_Frame_Shift_Ins_p.E306fs	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	306					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity	p.G306G(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		CTTTCCTTTTACCTTTCTTGTT	0.391													8	66	---	---	---	---					
RNFT2	84900	broad.mit.edu	37	12	117217136	117217137	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr12:117217136_117217137insT	ENST00000257575.4	+	7	1098_1099	c.865_866insT	c.(865-867)ggcfs	p.G289fs	RNFT2_ENST00000319176.7_Intron|RNFT2_ENST00000407967.3_Frame_Shift_Ins_p.G289fs|RNFT2_ENST00000392549.2_Frame_Shift_Ins_p.G289fs			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	289						integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		CAAGATCATCCTGGCTGTCAAG	0.540													30	64	---	---	---	---					
DLST	1743	broad.mit.edu	37	14	75367870	75367870	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr14:75367870delC	ENST00000334220.4	+	14	1222	c.1161delC	c.(1159-1161)aafs	p.N387fs	DLST_ENST00000334212.6_Frame_Shift_Del_p.N301fs	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	387					lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		CCATTATCAACCCCCCTCAGT	0.512													30	50	---	---	---	---					
SNHG14	104472715	broad.mit.edu	37	15	25436722	25436722	+	RNA	DEL	C	C	-			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr15:25436722delC	ENST00000424208.1	+	0	1092				SNHG14_ENST00000414175.1_RNA	NR_003305.1																						GGGCTGGAGACCTTGAGGCCC	0.572													34	118	---	---	---	---					
NUTM1	256646	broad.mit.edu	37	15	34648672	34648672	+	Frame_Shift_Del	DEL	G	G	-	rs112209348	byFrequency	TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr15:34648672delG	ENST00000537011.1	+	8	2845	c.2463delG	c.(2461-2463)gcfs	p.A824fs	NUTM1_ENST00000438749.3_Frame_Shift_Del_p.A814fs|NUTM1_ENST00000333756.4_Frame_Shift_Del_p.A796fs					NUT midline carcinoma, family member 1																		GCACAGTTGCGGCAGCTGCCC	0.552													21	69	---	---	---	---					
TNFRSF13B	23495	broad.mit.edu	37	17	16842891	16842892	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:16842891_16842892delCA	ENST00000261652.2	-	5	863_864	c.851_852delTG	c.(850-852)gfs	p.V284fs	TNFRSF13B_ENST00000437538.2_Intron|TNFRSF13B_ENST00000583789.1_Frame_Shift_Del_p.V238fs|TNFRSF13B_ENST00000579315.1_Intron	NM_012452.2	NP_036584.1	O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	284					cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						CCTGGGCAGGCACACACACAAT	0.629									IgA Deficiency, Selective				26	27	---	---	---	---					
FKBP10	60681	broad.mit.edu	37	17	39973310	39973311	+	Splice_Site	INS	-	-	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr17:39973310_39973311insT	ENST00000321562.4	+	2	350_351	c.245_splice	c.e2-1	p.R*82_splice		NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	82	PPIase FKBP-type 1.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		CCCCCCCCAGCTATGATCGCAA	0.609													16	89	---	---	---	---					
RP11-815J4.6	0	broad.mit.edu	37	18	12075446	12075446	+	RNA	DEL	T	T	-			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr18:12075446delT	ENST00000591780.1	-	0	1149																											GCCGCCTCTATCACATCTGCG	0.468													39	35	---	---	---	---					
TSHZ3	57616	broad.mit.edu	37	19	31768656	31768656	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:31768656delC	ENST00000240587.4	-	2	2370	c.2043delG	c.(2041-2043)ggfs	p.G681fs		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	681					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CGAGGGGGCTCCCATCCTTGC	0.662													26	49	---	---	---	---					
FCGBP	8857	broad.mit.edu	37	19	40399781	40399782	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:40399781_40399782insT	ENST00000221347.6	-	13	5920_5921	c.5913_5914insA	c.(5911-5916)gcccctfs	p.AP1971fs		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1971	TIL 4.					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)			GTCGTAAGGGGTGCAGGGGACG	0.619													10	24	---	---	---	---					
DMWD	1762	broad.mit.edu	37	19	46294313	46294313	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-A490-01A-11D-A24D-08	TCGA-55-A490-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d5cba2-8a3c-454c-8f94-e8d477dca675	41817231-26ea-46b4-9568-170042b1bbfd	g.chr19:46294313delC	ENST00000270223.6	-	2	519	c.474delG	c.(472-474)cgfs	p.R158fs	DMWD_ENST00000377735.3_Frame_Shift_Del_p.R158fs|DMWD_ENST00000601370.1_5'UTR	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	158					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		CCTTGTAGATCCGCTTGTCAA	0.542													41	72	---	---	---	---					
