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
WDR36	134430	broad.mit.edu	37	5	110428032	110428032	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr5:110428032G>T	ENST00000506538.2	+	1	619	c.46G>T	c.(46-48)Gcg>Tcg	p.A16S	WDR36_ENST00000505303.1_5'UTR|WDR36_ENST00000513710.2_Missense_Mutation_p.A16S	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36	16					response to stimulus|rRNA processing|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		TTCGCAGCGGGCGCCGGAAGC	0.587000													32	106					9.04072e-19	1.24186e-18	1	1	0
NGDN	25983	broad.mit.edu	37	14	23944419	23944419	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr14:23944419A>T	ENST00000397154.3	+	4	197	c.184A>T	c.(184-186)Atg>Ttg	p.M62L	NGDN_ENST00000408901.3_Missense_Mutation_p.M62L			Q8NEJ9	NGDN_HUMAN	neuroguidin, EIF4E binding protein	62	Necessary for interaction with EIF4E (By similarity).				regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GCTGCTGCTCATGTACCTTAT	0.453000													11	124					0	0	1	0	0
SLC20A2	6575	broad.mit.edu	37	8	42294630	42294630	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr8:42294630C>A	ENST00000342228.3	-	8	1769	c.1400G>T	c.(1399-1401)cGa>cTa	p.R467L	SLC20A2_ENST00000520179.1_Missense_Mutation_p.R467L|SLC20A2_ENST00000520262.1_Missense_Mutation_p.R467L	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	467					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			AGGGTCCTCTCGCGGCTGGTC	0.642000													14	44					1.5842e-08	1.98025e-08	1	1	0
PCDH15	65217	broad.mit.edu	37	10	55782910	55782910	+	Missense_Mutation	SNP	C	C	A	rs143662833		TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr10:55782910C>A	ENST00000373965.2	-	20	2683	c.2289G>T	c.(2287-2289)ttG>ttT	p.L763F	PCDH15_ENST00000395433.1_Missense_Mutation_p.L734F|PCDH15_ENST00000395445.1_Missense_Mutation_p.L763F|PCDH15_ENST00000320301.6_Missense_Mutation_p.L756F|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.L719F|PCDH15_ENST00000395438.1_Missense_Mutation_p.L756F|PCDH15_ENST00000409834.1_Missense_Mutation_p.L367F|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.L756F|PCDH15_ENST00000373955.1_Missense_Mutation_p.L756F|PCDH15_ENST00000437009.1_Missense_Mutation_p.L685F|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.L761F|PCDH15_ENST00000361849.3_Missense_Mutation_p.L756F|PCDH15_ENST00000395440.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	756	Cadherin 7.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TAAAGTTACCCAAACTGTAGT	0.368000										HNSCC(58;0.16)			5	51					0.000602214	0.000681238	1	1	0
GRIA2	2891	broad.mit.edu	37	4	158255237	158255237	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr4:158255237C>A	ENST00000296526.7	+	9	1556	c.1231C>A	c.(1231-1233)Ctt>Att	p.L411I	GRIA2_ENST00000449365.1_Missense_Mutation_p.L364I|GRIA2_ENST00000507898.1_Missense_Mutation_p.L364I|GRIA2_ENST00000264426.9_Missense_Mutation_p.L411I|GRIA2_ENST00000393815.2_Missense_Mutation_p.L364I	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	411					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	CACCTCTGGGCTTGAGAATAA	0.413000													11	97					2.68362e-12	3.56864e-12	1	1	0
CLEC4F	165530	broad.mit.edu	37	2	71043961	71043961	+	Silent	SNP	C	C	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr2:71043961C>T	ENST00000272367.2	-	4	628	c.552G>A	c.(550-552)aaG>aaA	p.K184K	CLEC4F_ENST00000426626.1_Silent_p.K184K	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	184					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						CAAGGTCTTCCTTGAGCCTCT	0.443000													10	84					0	0	1	0	0
KRT31	3881	broad.mit.edu	37	17	39553699	39553699	+	Silent	SNP	C	C	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr17:39553699C>A	ENST00000251645.2	-	1	145	c.93G>T	c.(91-93)ctG>ctT	p.L31L		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	31	Head.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				AGGCCCCGGGCAGGGTGCAGC	0.637000													15	86					2.32078e-09	2.97536e-09	1	1	0
BIVM-ERCC5	100533467	broad.mit.edu	37	13	103492149	103492149	+	Missense_Mutation	SNP	G	G	A	rs78150387		TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr13:103492149G>A	ENST00000602836.1	+	9	1360	c.1360G>A	c.(1360-1362)Gtc>Atc	p.V454I	BIVM_ENST00000419638.1_3'UTR|BIVM_ENST00000257336.1_Missense_Mutation_p.M482I|BIVM_ENST00000448849.2_Missense_Mutation_p.M260I	NM_001204425.1	NP_001191354.1	Q59FZ7	Q59FZ7_HUMAN		0					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding										GGAAAAAGATGTCTAGTATCC	0.448000													15	180					0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	66986005	66986005	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr17:66986005T>C	ENST00000340001.4	-	30	4115	c.3904A>G	c.(3904-3906)Aaa>Gaa	p.K1302E	ABCA9_ENST00000370732.2_Missense_Mutation_p.K1302E|ABCA9_ENST00000453985.2_Missense_Mutation_p.K1264E	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1302	ABC transporter 2.				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)					TTCTTCCTTTTAGAAAAGCAA	0.358000													18	64					0	0	1	0	0
CDON	50937	broad.mit.edu	37	11	125875949	125875949	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr11:125875949G>A	ENST00000392693.3	-	9	1683	c.1556C>T	c.(1555-1557)cCt>cTt	p.P519L	CDON_ENST00000263577.7_Missense_Mutation_p.P519L	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	519					cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TGTTTCAAAAGGAACTGCAGG	0.443000													8	53					0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887539	12887539	+	Silent	SNP	G	G	C			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr1:12887539G>C	ENST00000535591.1	-	3	513	c.318C>G	c.(316-318)ccC>ccG	p.P106P		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	106										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ACACAGTCAAGGGCTGCCGTT	0.502000													16	417					0	0	1	0	0
NRIP1	8204	broad.mit.edu	37	21	16340347	16340347	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr21:16340347C>A	ENST00000400202.1	-	3	879	c.167G>T	c.(166-168)aGt>aTt	p.S56I	NRIP1_ENST00000318948.4_Missense_Mutation_p.S56I|NRIP1_ENST00000400199.1_Missense_Mutation_p.S56I			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	56					androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		GGGAAATGCACTGCCAGAAAT	0.463000													3	40					1	1	1	1	0
PTCH1	5727	broad.mit.edu	37	9	98231341	98231341	+	Missense_Mutation	SNP	G	G	C	rs149762881		TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr9:98231341G>C	ENST00000430669.2	-	14	2329	c.1744C>G	c.(1744-1746)Cac>Gac	p.H582D	PTCH1_ENST00000331920.6_Missense_Mutation_p.H648D|PTCH1_ENST00000421141.1_Missense_Mutation_p.H497D|PTCH1_ENST00000429896.2_Missense_Mutation_p.H497D|PTCH1_ENST00000375274.2_Missense_Mutation_p.H647D|PTCH1_ENST00000437951.1_Missense_Mutation_p.H582D|PTCH1_ENST00000418258.1_Missense_Mutation_p.H497D			Q13635	PTC1_HUMAN	patched 1	648	SSD.				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)				GCAAAGCTGTGGCTGCTGTAG	0.592000													6	131					0	0	1	0	0
IGHV3-13	28449	broad.mit.edu	37	14	106586374	106586374	+	RNA	SNP	C	C	G			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr14:106586374C>G	ENST00000390602.2	-	0	190																											AGGAGAGTCTCAGGGACCCCC	0.557000													29	162					0	0	1	0	0
NFRKB	4798	broad.mit.edu	37	11	129751682	129751682	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr11:129751682C>A	ENST00000446488.3	-	11	1361	c.1258G>T	c.(1258-1260)Gcc>Tcc	p.A420S	NFRKB_ENST00000524794.1_Missense_Mutation_p.A445S|NFRKB_ENST00000524746.1_Missense_Mutation_p.A420S|NFRKB_ENST00000304521.5_Missense_Mutation_p.A420S	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	420					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		CAGTTGGGGGCCGCAGAGAAC	0.532000											OREG0021512	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	39					1.024e-07	1.26108e-07	1	1	0
PPP2R5D	5528	broad.mit.edu	37	6	42976164	42976164	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr6:42976164T>A	ENST00000485511.1	+	9	1156	c.977T>A	c.(976-978)gTc>gAc	p.V326D	PPP2R5D_ENST00000394110.3_Missense_Mutation_p.V294D|PPP2R5D_ENST00000472118.1_Missense_Mutation_p.V318D|PPP2R5D_ENST00000461010.1_Missense_Mutation_p.V220D	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	326					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CTCATCCGTGTCCTACTTCCC	0.493000													14	109					0	0	1	0	0
RNASEH2A	10535	broad.mit.edu	37	19	12920891	12920891	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr19:12920891G>A	ENST00000221486.4	+	5	512	c.418G>A	c.(418-420)Gtg>Atg	p.V140M		NM_006397.2	NP_006388.2	O75792	RNH2A_HUMAN	ribonuclease H2, subunit A	140					DNA replication|RNA catabolic process	nucleus|ribonuclease H2 complex	metal ion binding|ribonuclease H activity|RNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	14						GCAGGTATTCGTGGACACCGT	0.532000													12	167					0	0	1	0	0
BANK1	55024	broad.mit.edu	37	4	102951124	102951124	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr4:102951124G>T	ENST00000504592.1	+	14	1975	c.1557G>T	c.(1555-1557)atG>atT	p.M519I	BANK1_ENST00000428908.1_Missense_Mutation_p.M401I|RP11-498M5.2_ENST00000505091.1_RNA|BANK1_ENST00000444316.2_Missense_Mutation_p.M504I|BANK1_ENST00000508653.1_Missense_Mutation_p.M401I|BANK1_ENST00000510950.1_3'UTR|BANK1_ENST00000322953.4_Missense_Mutation_p.M534I			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	534					B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		CAGGGACAATGGTGGAAGGCC	0.413000													14	105					2.61681e-11	3.46139e-11	1	1	0
COL12A1	1303	broad.mit.edu	37	6	75815007	75815007	+	Splice_Site	SNP	C	C	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr6:75815007C>A	ENST00000322507.8	-	54	8489	c.8178_splice	c.e54-1	p.R2727_splice	COL12A1_ENST00000483888.2_Splice_Site_p.R2727_splice|COL12A1_ENST00000416123.2_Splice_Site_p.R2651_splice|COL12A1_ENST00000345356.6_Splice_Site_p.R1563_splice	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2727	Nonhelical region (NC3).				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TCCCTCATCTCTCTGAAATTT	0.428000													6	15					2.0095e-06	2.41526e-06	1	1	0
SPATA31E1	286234	broad.mit.edu	37	9	90501788	90501788	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr9:90501788G>C	ENST00000325643.5	+	4	2452	c.2386G>C	c.(2386-2388)Gtt>Ctt	p.V796L		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		CAAATGTGCTGTTCCCAAGTC	0.577000													19	79					0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197026510	197026510	+	Silent	SNP	T	T	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr1:197026510T>A	ENST00000367412.1	-	6	934	c.891A>T	c.(889-891)atA>atT	p.I297I		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	297	Sushi 5.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						CTATATGAACTATTTCTCCAT	0.368000													39	101					0	0	1	0	0
UBAP2L	9898	broad.mit.edu	37	1	154218748	154218748	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr1:154218748C>G	ENST00000428931.1	+	11	1078	c.911C>G	c.(910-912)cCg>cGg	p.P304R	UBAP2L_ENST00000343815.6_Missense_Mutation_p.P304R|UBAP2L_ENST00000361546.2_Missense_Mutation_p.P304R|UBAP2L_ENST00000271877.7_Missense_Mutation_p.P315R	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	304					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AATCTGGATCCGTCTCAGGCT	0.478000													14	112					0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18300359	18300359	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr22:18300359C>A	ENST00000441493.2	-	26	5420	c.5068G>T	c.(5068-5070)Gag>Tag	p.E1690*		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1690						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)		CTGGAGCCCTCGGATGAAGTG	0.632000													6	25					3.59834e-05	4.2234e-05	1	1	0
SERPINA6	866	broad.mit.edu	37	14	94772468	94772468	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr14:94772468C>A	ENST00000341584.3	-	4	1118	c.972G>T	c.(970-972)ttG>ttT	p.L324F		NM_001756.3	NP_001747.2	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	324					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	GGTTGGTGAACAAGTCTGCAA	0.517000													8	69					0.00307968	0.00337684	1	1	0
POT1	25913	broad.mit.edu	37	7	124464073	124464073	+	Silent	SNP	T	T	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr7:124464073T>A	ENST00000357628.3	-	19	2446	c.1848A>T	c.(1846-1848)acA>acT	p.T616T	POT1_ENST00000393329.1_Silent_p.T485T	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	616					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TTTGATTATCTGTTCCATTTG	0.328000													5	36					0	0	1	0	0
POLR2J4	84820	broad.mit.edu	37	7	44054352	44054352	+	RNA	SNP	T	T	C	rs56000326	by1000genomes	TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr7:44054352T>C	ENST00000427076.1	-	0	209					NR_003655.2																						AGCCAGCAAATAGCACTTGCG	0.577000													10	183					0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47125821	47125821	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr3:47125821C>A	ENST00000409792.3	-	12	5491	c.5449G>T	c.(5449-5451)Gaa>Taa	p.E1817*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1817					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ACTTTGCTTTCCTCCAACATA	0.368000			"""N, F, S, Mis"""		clear cell renal carcinoma								10	39					2.17888e-05	2.56943e-05	1	1	0
CIDEC	63924	broad.mit.edu	37	3	9911905	9911905	+	Silent	SNP	C	C	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr3:9911905C>A	ENST00000336832.2	-	4	448	c.309G>T	c.(307-309)ggG>ggT	p.G103G	CIDEC_ENST00000430427.1_Silent_p.G113G|CIDEC_ENST00000455015.1_Silent_p.G29G|CIDEC_ENST00000383817.1_Intron|CIDEC_ENST00000423850.1_Silent_p.G29G|CIDEC_ENST00000443115.1_Intron	NM_001199552.1|NM_001199623.1|NM_022094.3	NP_001186481.1|NP_001186552.1|NP_071377.2	Q96AQ7	CIDEC_HUMAN	cell death-inducing DFFA-like effector c	103	CIDE-N.				apoptosis|induction of apoptosis	cytosol|focal adhesion|nucleus				breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	8	Medulloblastoma(99;0.227)					ACACTGTATCCCCTGCCAGGG	0.562000													12	133					1.5842e-08	1.98025e-08	1	1	0
POTEG	404785	broad.mit.edu	37	14	19563492	19563492	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr14:19563492C>A	ENST00000409832.3	+	5	1058	c.1006C>A	c.(1006-1008)Cta>Ata	p.L336I	CTD-2311B13.5_ENST00000548748.1_lincRNA	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	336										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TTCTCAAGATCTATCTGGACA	0.368000													11	170					7.03913e-09	8.9329e-09	1	1	0
SWAP70	23075	broad.mit.edu	37	11	9759781	9759781	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr11:9759781C>T	ENST00000318950.6	+	8	1205	c.1102C>T	c.(1102-1104)Cgt>Tgt	p.R368C	SWAP70_ENST00000447399.2_Missense_Mutation_p.R310C	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	368						cytoplasm|lamellipodium|nucleus|plasma membrane	calcium ion binding|DNA binding			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		AGCAGCATCTCGTGCAGCAGA	0.453000													5	40					0	0	1	0	0
RPAP1	26015	broad.mit.edu	37	15	41823316	41823316	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr15:41823316C>T	ENST00000304330.4	-	7	964	c.848G>A	c.(847-849)gGa>gAa	p.G283E	RPAP1_ENST00000561603.1_Missense_Mutation_p.G283E|RPAP1_ENST00000568413.1_5'UTR	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	283						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		AGAGGGTCCTCCTGGCCTCTG	0.562000													22	150					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58208912	58208912	+	Silent	SNP	C	C	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr13:58208912C>A	ENST00000377918.3	+	1	2258	c.2232C>A	c.(2230-2232)atC>atA	p.I744I		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	744					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ACTGCCGCATCGCCGAGTACA	0.552000													6	53					8.12818e-05	9.32131e-05	1	1	0
OR1N2	138882	broad.mit.edu	37	9	125315750	125315750	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr9:125315750A>T	ENST00000373688.2	+	1	360	c.302A>T	c.(301-303)aAc>aTc	p.N101I		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						ATGCTGGCCAACATTCATACC	0.488000													44	176					0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	62921109	62921109	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr1:62921109C>T	ENST00000251157.5	-	49	6399	c.6366G>A	c.(6364-6366)atG>atA	p.M2122I	DOCK7_ENST00000340370.5_Missense_Mutation_p.M2102I	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	2133					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						TGCGAAGGCTCATTCGACTGA	0.343000													8	47					0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887540	12887540	+	Missense_Mutation	SNP	G	G	T	rs144734781	by1000genomes	TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr1:12887540G>T	ENST00000535591.1	-	3	512	c.317C>A	c.(316-318)cCc>cAc	p.P106H		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	106										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						CACAGTCAAGGGCTGCCGTTC	0.498000													15	413					1.62403e-39	2.2682e-39	1	1	0
FLNA	2316	broad.mit.edu	37	X	153581235	153581235	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chrX:153581235T>C	ENST00000422373.1	-	38	6508	c.6260A>G	c.(6259-6261)gAg>gGg	p.E2087G	FLNA_ENST00000369856.3_Missense_Mutation_p.E228G|FLNA_ENST00000369850.3_Missense_Mutation_p.E2095G|FLNA_ENST00000344736.4_Missense_Mutation_p.E2055G|FLNA_ENST00000360319.4_Missense_Mutation_p.E2087G	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	2095					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTCCAGGTCCTCTGTGTTGAT	0.597000													5	49					0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16287775	16287775	+	Silent	SNP	C	C	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr22:16287775C>A	ENST00000343518.6	-	1	162	c.111G>T	c.(109-111)ggG>ggT	p.G37G		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	37										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TCTTGCCGCTCCCCCTGCACC	0.587000													55	503					2.5401e-28	3.52791e-28	1	1	0
PDE4DIP	9659	broad.mit.edu	37	1	144931557	144931557	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr1:144931557C>A	ENST00000529945.1	-	1	591	c.152G>T	c.(151-153)tGc>tTc	p.C51F	PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.C51F|PDE4DIP_ENST00000313382.9_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ACACTTGCTGCAAGCGAACTC	0.527000			T	PDGFRB	MPD								5	130					0.184627	0.18687	1	1	0
CDH9	1007	broad.mit.edu	37	5	26881636	26881636	+	Missense_Mutation	SNP	T	T	G			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr5:26881636T>G	ENST00000231021.4	-	12	2151	c.1979A>C	c.(1978-1980)aAc>aCc	p.N660T		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	660					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						GCCTTCATCGTTGTAGGTCAC	0.428000													33	206					0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3328998	3328998	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr1:3328998C>G	ENST00000378398.3	+	10	2322	c.2240C>G	c.(2239-2241)gCc>gGc	p.A747G	PRDM16_ENST00000511072.1_Missense_Mutation_p.A747G|PRDM16_ENST00000270722.5_Missense_Mutation_p.A746G|PRDM16_ENST00000514189.1_Missense_Mutation_p.A747G|PRDM16_ENST00000442529.2_Missense_Mutation_p.A746G|PRDM16_ENST00000441472.2_Missense_Mutation_p.A746G|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Missense_Mutation_p.A746G			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	746	Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.				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)		CGAGCCCTCGCCCACAACTTG	0.652000			T	EVI1	"""MDS, AML"""								10	77					0	0	1	0	0
PCDH7	5099	broad.mit.edu	37	4	30725202	30725202	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr4:30725202C>T	ENST00000361762.2	+	1	3166	c.2158C>T	c.(2158-2160)Cct>Tct	p.P720S	PCDH7_ENST00000543491.1_Missense_Mutation_p.P720S	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	720	Cadherin 6.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.P720S(1)|p.P673S(1)		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						TGGGGGAGATCCTCCCAGATC	0.453000													34	108					0	0	1	0	0
OR1L3	26735	broad.mit.edu	37	9	125437626	125437626	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr9:125437626A>G	ENST00000304820.2	+	1	312	c.218A>G	c.(217-219)tAc>tGc	p.Y73C		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						GATATTTGCTACACAACAGTC	0.403000													7	204					0	0	1	0	0
GJA3	2700	broad.mit.edu	37	13	20716810	20716810	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr13:20716810G>C	ENST00000241125.3	-	2	794	c.618C>G	c.(616-618)ttC>ttG	p.F206L		NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN	gap junction protein, alpha 3, 46kDa	206					cell-cell signaling|visual perception	connexon complex|integral to membrane				NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		CCGCCAGCATGAAGATGATGA	0.637000													9	56					0	0	1	0	0
DBT	1629	broad.mit.edu	37	1	100672076	100672076	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr1:100672076C>A	ENST00000370132.3	-	9	1147	c.1134G>T	c.(1132-1134)caG>caT	p.Q378H		NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	378					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		AGCCCAATTTCTGGAGGCGGT	0.418000													20	244					1.64293e-13	2.20824e-13	1	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33751454	33751454	+	Nonsense_Mutation	SNP	A	A	T	rs1530507	by1000genomes	TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr5:33751454A>T	ENST00000515401.1	-	3	851	c.689T>A	c.(688-690)tTg>tAg	p.L230*	ADAMTS12_ENST00000504582.1_Intron|ADAMTS12_ENST00000352040.3_Intron|ADAMTS12_ENST00000504830.1_Intron			P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	0					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.L230*(1)		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						TTAATAAAACAACCAAAAGAA	0.353000										HNSCC(64;0.19)			5	79					0	0	1	0	0
TRIM69	140691	broad.mit.edu	37	15	45059749	45059749	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr15:45059749G>A	ENST00000558173.1	+	5	5415	c.670G>A	c.(670-672)Gat>Aat	p.D224N	TRIM69_ENST00000561043.1_Missense_Mutation_p.D191N|TRIM69_ENST00000560442.1_Missense_Mutation_p.D224N|TRIM69_ENST00000558329.1_Missense_Mutation_p.D207N|TRIM69_ENST00000559390.1_Missense_Mutation_p.D428N|TRIM69_ENST00000338264.4_Missense_Mutation_p.D269N|TRIM69_ENST00000329464.4_Missense_Mutation_p.D428N			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	428					apoptosis	nuclear speck	zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		AAAGGCTCTGGATTTGCCTTC	0.448000													7	80					0	0	1	0	0
ZNF44	51710	broad.mit.edu	37	19	12384377	12384377	+	Silent	SNP	A	A	G			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr19:12384377A>G	ENST00000356109.5	-	5	955	c.837T>C	c.(835-837)tcT>tcC	p.S279S	ZNF44_ENST00000355684.5_Silent_p.S231S	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		GGAAGGCTTTAGAACACTGCT	0.393000													19	190					0	0	1	0	0
HEPACAM	220296	broad.mit.edu	37	11	124792302	124792302	+	Silent	SNP	G	G	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr11:124792302G>T	ENST00000298251.4	-	6	1335	c.930C>A	c.(928-930)ctC>ctA	p.L310L		NM_152722.4	NP_689935.2	Q14CZ8	HECAM_HUMAN	hepatic and glial cell adhesion molecule	310					cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		TCAGGATATAGAGTGCCATGG	0.582000													11	207					4.68919e-08	5.80345e-08	1	1	0
OR4L1	122742	broad.mit.edu	37	14	20528894	20528894	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr14:20528894C>A	ENST00000315683.1	+	1	691	c.691C>A	c.(691-693)Cat>Aat	p.H231N		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AAAATCATCACATGGGCTCTC	0.443000													32	148					1.80694e-10	2.3406e-10	1	1	0
OR1C1	26188	broad.mit.edu	37	1	247921334	247921334	+	Silent	SNP	C	C	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr1:247921334C>A	ENST00000408896.2	-	1	648	c.375G>T	c.(373-375)gcG>gcT	p.A125A		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A125A(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GGTGGCAAATCGCCACATATC	0.507000													6	67					0.0215528	0.0223576	1	1	0
NF1	4763	broad.mit.edu	37	17	29556469	29556469	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr17:29556469G>T	ENST00000358273.4	+	21	3219	c.2836G>T	c.(2836-2838)Gac>Tac	p.D946Y	NF1_ENST00000356175.3_Missense_Mutation_p.D946Y	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	946					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CAAGTTTTTTGACTCCCAAGG	0.343000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			21	144					2.32416e-17	3.17508e-17	1	1	0
MMP17	4326	broad.mit.edu	37	12	132334399	132334399	+	Silent	SNP	C	C	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr12:132334399C>T	ENST00000360564.1	+	9	1359	c.1257C>T	c.(1255-1257)cgC>cgT	p.R419R	MMP17_ENST00000535004.1_Intron|MMP17_ENST00000535291.1_Silent_p.R335R	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	419	Hemopexin-like 2.				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)		GATACCCGCGCCCCGTCTCCG	0.617000													22	108					0	0	1	0	0
MTO1	25821	broad.mit.edu	37	6	74171583	74171583	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr6:74171583C>G	ENST00000498286.1	+	1	283	c.6C>G	c.(4-6)ttC>ttG	p.F2L	MTO1_ENST00000415954.2_Missense_Mutation_p.F2L|MTO1_ENST00000370305.1_Intron|MTO1_ENST00000370300.4_Missense_Mutation_p.F2L			Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	2					tRNA processing	mitochondrion	flavin adenine dinucleotide binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						CCAGCATGTTCTACTTCCGAG	0.552000													8	54					0	0	1	0	0
POT1	25913	broad.mit.edu	37	7	124464072	124464072	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr7:124464072C>G	ENST00000357628.3	-	19	2447	c.1849G>C	c.(1849-1851)Gat>Cat	p.D617H	POT1_ENST00000393329.1_Missense_Mutation_p.D486H	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	617					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						ATTTGATTATCTGTTCCATTT	0.328000													5	36					0	0	1	0	0
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													3	36					0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54403952	54403952	+	Silent	SNP	C	C	T	rs115736276	byFrequency	TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr19:54403952C>T	ENST00000263431.3	+	14	1806	c.1524C>T	c.(1522-1524)ccC>ccT	p.P508P	PRKCG_ENST00000542049.1_Silent_p.P395P|PRKCG_ENST00000540413.1_Silent_p.P508P	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	508	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	p.P508P(1)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	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;0.0521)		ACGTCTTCCCCGGGACGACAA	0.577000													42	335					0	0	1	0	0
RCN3	57333	broad.mit.edu	37	19	50031856	50031856	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr19:50031856G>T	ENST00000270645.3	+	2	574	c.127G>T	c.(127-129)Gct>Tct	p.A43S	RCN3_ENST00000593644.1_3'UTR	NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	43						endoplasmic reticulum lumen	calcium ion binding|protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		CCTGAGCGACGCTCCCCATGA	0.647000													10	112					2.27111e-07	2.7562e-07	1	1	0
USP36	57602	broad.mit.edu	37	17	76799722	76799722	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr17:76799722G>A	ENST00000312010.6	-	16	2879	c.2555C>T	c.(2554-2556)cCg>cTg	p.P852L	USP36_ENST00000542802.2_Missense_Mutation_p.P852L|USP36_ENST00000449938.2_Intron	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	852					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)			TGTGTCCTCCGGGCGcttctt	0.677000													4	59					0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39604093	39604093	+	Nonsense_Mutation	SNP	A	A	C			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr8:39604093A>C	ENST00000265708.4	-	19	2175	c.2072T>G	c.(2071-2073)tTa>tGa	p.L691*	ADAM2_ENST00000347580.4_Nonsense_Mutation_p.L672*|ADAM2_ENST00000379853.2_Nonsense_Mutation_p.L535*|ADAM2_ENST00000521880.1_Nonsense_Mutation_p.L628*	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	691					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		AGGAATGAATAAGAAAAATGG	0.328000													41	107					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77799691	77799691	+	Splice_Site	SNP	T	T	C			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr13:77799691T>C	ENST00000407578.2	-	19	3004		c.e19-2		MYCBP2_ENST00000544440.2_Splice_Site|MYCBP2_ENST00000357337.6_Splice_Site|MYCBP2_ENST00000360084.5_Splice_Site	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CACTTCCATCTGCAAGTGTTA	0.363000													6	61					0	0	1	0	0
FST	10468	broad.mit.edu	37	5	52778794	52778794	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr5:52778794G>T	ENST00000396947.3	+	2	336	c.170G>T	c.(169-171)aGc>aTc	p.S57I	FST_ENST00000256759.3_Missense_Mutation_p.S57I	NM_006350.3	NP_006341.1	P19883	FST_HUMAN	follistatin	57	TB.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				GAGTGCTGCAGCACCGGCCGG	0.602000											OREG0016608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	77					1.45105e-14	1.97154e-14	1	1	0
ALB	213	broad.mit.edu	37	4	74283994	74283994	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr4:74283994C>A	ENST00000295897.4	+	12	1707	c.1618C>A	c.(1618-1620)Ctt>Att	p.L540I	ALB_ENST00000505649.1_3'UTR|ALB_ENST00000401494.3_Missense_Mutation_p.L425I|ALB_ENST00000415165.2_Missense_Mutation_p.L348I|ALB_ENST00000503124.1_Missense_Mutation_p.L390I|ALB_ENST00000509063.1_Missense_Mutation_p.L540I	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	540	Albumin 3.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	TATATGCACACTTTCTGAGAA	0.403000													9	58					0.00621372	0.0067248	1	1	0
BTN2A1	11120	broad.mit.edu	37	6	26459792	26459792	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr6:26459792G>C	ENST00000429381.1	+	3	378	c.166G>C	c.(166-168)Gag>Cag	p.E56Q	BTN2A1_ENST00000312541.5_Missense_Mutation_p.E56Q|BTN2A1_ENST00000469185.1_Missense_Mutation_p.E56Q|BTN2A1_ENST00000541522.1_5'UTR			Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	56	Ig-like V-type.				lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						TCTGTCACCCGAGAAAAATGC	0.532000													10	80					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70503924	70503924	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr1:70503924G>A	ENST00000310961.5	+	22	2736	c.2318G>A	c.(2317-2319)tGg>tAg	p.W773*	LRRC7_ENST00000035383.5_Nonsense_Mutation_p.W768*|LRRC7_ENST00000415775.2_Nonsense_Mutation_p.W52*			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	768						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						ACTGACAACTGGACTGATGGC	0.502000													18	210					0	0	1	0	0
SESTD1	91404	broad.mit.edu	37	2	180008450	180008450	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr2:180008450C>A	ENST00000428443.3	-	9	1034	c.718G>T	c.(718-720)Gaa>Taa	p.E240*		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	240					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding	p.E240K(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			GCAAGAAGTTCATCATCCATA	0.438000													17	98					9.16793e-09	1.15757e-08	1	1	0
DUOX2	50506	broad.mit.edu	37	15	45404770	45404770	+	Missense_Mutation	SNP	C	C	T	rs148211186	byFrequency	TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr15:45404770C>T	ENST00000389039.6	-	4	692	c.307G>A	c.(307-309)Gta>Ata	p.V103I	DUOX2_ENST00000603300.1_Missense_Mutation_p.V103I			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	103	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		ACCCCCAGTACGGTGCGGTTG	0.682000													4	47					0	0	1	0	0
AQP11	282679	broad.mit.edu	37	11	77301280	77301280	+	Silent	SNP	C	C	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr11:77301280C>T	ENST00000313578.3	+	1	601	c.243C>T	c.(241-243)ctC>ctT	p.L81L	AQP11_ENST00000528638.1_Intron	NM_173039.2	NP_766627.1	Q8NBQ7	AQP11_HUMAN	aquaporin 11	81						cell surface|integral to membrane	transporter activity			kidney(2)|large_intestine(1)|lung(5)	8	all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249)		Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			CGCTGACGCTCGTCTACTTCT	0.632000													6	55					0	0	1	0	0
AOC2	314	broad.mit.edu	37	17	40997280	40997280	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr17:40997280C>T	ENST00000253799.3	+	1	664	c.637C>T	c.(637-639)Cgc>Tgc	p.R213C	AOC2_ENST00000452774.2_Missense_Mutation_p.R213C	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	213					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TCGGGGCTTGCGCTCAGGGGA	0.592000													6	133					0	0	1	0	0
CEP164	22897	broad.mit.edu	37	11	117267878	117267878	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr11:117267878T>C	ENST00000278935.3	+	27	3497	c.3350T>C	c.(3349-3351)cTt>cCt	p.L1117P	CEP164_ENST00000533706.1_3'UTR	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1117					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AAGGAGTTCCTTGTGCAGCAG	0.607000													12	59					0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178413862	178413862	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr5:178413862A>T	ENST00000231188.5	-	7	1655	c.1477T>A	c.(1477-1479)Tgg>Agg	p.W493R	GRM6_ENST00000517717.1_Missense_Mutation_p.W493R|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	493					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GTCTCTGCCCACTGGCCCACT	0.647000													5	47					0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176011589	176011589	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr5:176011589G>C	ENST00000510636.1	+	19	2581	c.2307G>C	c.(2305-2307)gaG>gaC	p.E769D	CDHR2_ENST00000506348.1_Missense_Mutation_p.E769D|CDHR2_ENST00000261944.5_Missense_Mutation_p.E769D	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	769	Cadherin 7.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	p.E769E(1)		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						TGGATTACGAGACACAGCCCG	0.602000													8	161					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71212867	71212867	+	Silent	SNP	G	G	C	rs143520327		TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr16:71212867G>C	ENST00000393567.2	-	4	495	c.345C>G	c.(343-345)gtC>gtG	p.V115V	HYDIN_ENST00000288168.10_Silent_p.V132V|HYDIN_ENST00000541601.1_Silent_p.V132V|HYDIN_ENST00000393550.2_Silent_p.V115V|HYDIN_ENST00000448691.1_Silent_p.V115V|HYDIN_ENST00000321489.5_Silent_p.V115V|HYDIN_ENST00000448089.2_Silent_p.V115V|HYDIN_ENST00000538248.1_Silent_p.V142V	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	115										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)				GAACTTCATAGACTTCACAGG	0.388000													10	105					0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18823362	18823362	+	Nonsense_Mutation	SNP	G	G	C			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr16:18823362G>C	ENST00000446231.2	-	61	11121	c.10709C>G	c.(10708-10710)tCa>tGa	p.S3570*	SMG1_ENST00000389467.3_Nonsense_Mutation_p.S3571*|RP11-1035H13.2_ENST00000569096.1_RNA			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3570					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						AGTATCAGCTGATGTAGCAAG	0.458000													9	59					0	0	1	0	0
TPX2	22974	broad.mit.edu	37	20	30366710	30366710	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr20:30366710C>A	ENST00000340513.4	+	10	1505	c.977C>A	c.(976-978)cCc>cAc	p.P326H	TPX2_ENST00000300403.6_Missense_Mutation_p.P326H			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	326					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			ACATATGTGCCCCTTGCACAG	0.408000													15	138					1.52009e-12	2.03221e-12	1	1	0
ZNF852	285346	broad.mit.edu	37	3	44541285	44541285	+	Silent	SNP	T	T	C			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr3:44541285T>C	ENST00000436261.1	-	4	1144	c.984A>G	c.(982-984)aaA>aaG	p.K328K	ZNF852_ENST00000489411.1_5'UTR			B6EU87	B6EU87_HUMAN	zinc finger protein 852	328					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)	8						ATTCATTACATTTATAAGGCT	0.418000													17	59					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77389917	77389917	+	Silent	SNP	G	G	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr16:77389917G>T	ENST00000282849.5	-	9	1798	c.1380C>A	c.(1378-1380)atC>atA	p.I460I		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	460	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TGGGAGACATGATATTGCCTT	0.448000													17	81					3.41278e-10	4.39792e-10	1	1	0
ZNF366	167465	broad.mit.edu	37	5	71739752	71739752	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr5:71739752T>A	ENST00000318442.5	-	5	2556	c.2066A>T	c.(2065-2067)cAg>cTg	p.Q689L		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	689					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)		GTCTCTCTCCTGGCCGCCCTC	0.577000													78	202					0	0	1	0	0
C1orf56	54964	broad.mit.edu	37	1	151021310	151021310	+	Silent	SNP	G	G	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr1:151021310G>A	ENST00000368926.5	+	1	1095	c.987G>A	c.(985-987)gtG>gtA	p.V329V	C1orf56_ENST00000465135.1_3'UTR	NM_017860.3	NP_060330.2	Q9BUN1	CA056_HUMAN	chromosome 1 open reading frame 56	329						extracellular region				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|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)			TCTCTTCAGTGTTCACAGAGA	0.537000											OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	118					0	0	1	0	0
XPR1	9213	broad.mit.edu	37	1	180775292	180775292	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr1:180775292A>T	ENST00000367590.4	+	5	740	c.542A>T	c.(541-543)gAg>gTg	p.E181V	XPR1_ENST00000367589.3_Missense_Mutation_p.E181V	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	181						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						GCTCACGTAGAGGTGGCCCCA	0.398000													11	93					0	0	1	0	0
SBF2	81846	broad.mit.edu	37	11	10064513	10064513	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr11:10064513C>T	ENST00000256190.8	-	3	294	c.157G>A	c.(157-159)Ggg>Agg	p.G53R	SBF2_ENST00000527019.1_5'UTR	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	53	UDENN.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		AGCTGCCACCCGCCAGGCTGA	0.373000													11	42					0	0	1	0	0
SLC30A3	7781	broad.mit.edu	37	2	27481716	27481716	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr2:27481716G>T	ENST00000233535.4	-	2	534	c.182C>A	c.(181-183)cCg>cAg	p.P61Q	SLC30A3_ENST00000447008.2_Missense_Mutation_p.P56Q	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	61					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCCGGCGGCGGAAGGGGGTC	0.617000													13	37					1.61879e-10	2.1078e-10	1	1	0
TTC13	79573	broad.mit.edu	37	1	231067531	231067531	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr1:231067531A>T	ENST00000366661.4	-	10	1083	c.1076T>A	c.(1075-1077)aTg>aAg	p.M359K	TTC13_ENST00000414259.1_Missense_Mutation_p.M306K|TTC13_ENST00000366662.4_Missense_Mutation_p.M306K	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	359							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		GTAGAGCATCATTCCCCGGAG	0.438000													10	117					0	0	1	0	0
DMTF1	9988	broad.mit.edu	37	7	86820293	86820293	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr7:86820293G>C	ENST00000414194.2	+	14	2438	c.646G>C	c.(646-648)Gaa>Caa	p.E216Q	DMTF1_ENST00000432937.2_Missense_Mutation_p.E394Q|DMTF1_ENST00000413276.2_Missense_Mutation_p.E412Q|DMTF1_ENST00000394703.5_Missense_Mutation_p.E482Q|DMTF1_ENST00000331242.7_Missense_Mutation_p.E482Q			Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	482	Interaction with CCND1, CCND2 and CCND3 (By similarity).|Interaction with CCND2 (By similarity).|Required for DNA-binding (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					CGTTGACTCAGAAACAATAAC	0.353000													7	66					0	0	1	0	0
CHD1	1105	broad.mit.edu	37	5	98224786	98224786	+	Silent	SNP	G	G	C			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr5:98224786G>C	ENST00000284049.3	-	15	2486	c.2337C>G	c.(2335-2337)gcC>gcG	p.A779A		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	779					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TTACTTGTAAGGCCTCCTGTT	0.308000													21	46					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35608152	35608152	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr8:35608152C>T	ENST00000287272.2	+	12	1801	c.1781C>T	c.(1780-1782)cCc>cTc	p.P594L	UNC5D_ENST00000416672.1_Missense_Mutation_p.P668L|UNC5D_ENST00000453357.2_Missense_Mutation_p.P658L|UNC5D_ENST00000420357.1_Missense_Mutation_p.P596L|UNC5D_ENST00000449677.1_Missense_Mutation_p.P239L|UNC5D_ENST00000404895.2_Missense_Mutation_p.P663L			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	663	ZU5.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CTTTTGGACCCCTTTGCGTGT	0.473000													9	153					0	0	1	0	0
SUMO1	7341	broad.mit.edu	37	2	203072017	203072017	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr2:203072017C>G	ENST00000392246.2	-	5	421	c.265G>C	c.(265-267)Gaa>Caa	p.E89Q	SUMO1_ENST00000392245.1_Missense_Mutation_p.E89Q|SUMO1_ENST00000409712.1_Missense_Mutation_p.E65Q|SUMO1_ENST00000392244.3_Missense_Mutation_p.E64Q|SUMO1_ENST00000469034.1_5'UTR|SUMO1_ENST00000409498.2_Missense_Mutation_p.E50Q|SUMO1_ENST00000409205.1_Missense_Mutation_p.E50Q|SUMO1_ENST00000409368.1_Missense_Mutation_p.E134Q|SUMO1_ENST00000409181.1_3'UTR	NM_003352.4	NP_003343.1	P63165	SUMO1_HUMAN	small ubiquitin-like modifier 1	89	Ubiquitin-like.				DNA repair|interferon-gamma-mediated signaling pathway|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|palate development|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein complex assembly|protein sumoylation|regulation of interferon-gamma-mediated signaling pathway|regulation of protein localization	cytoplasm|nuclear membrane|nuclear pore|nuclear speck	ubiquitin protein ligase binding										TGATAAACTTCAATCACATCT	0.308000													35	232					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149529907	149529907	+	RNA	SNP	G	G	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr7:149529907G>A	ENST00000378016.2	+	0	15324							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTCTAGACCCGGAGAGCCCTG	0.642000													3	44					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30694770	30694770	+	Silent	SNP	C	C	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr8:30694770C>T	ENST00000256246.2	-	3	7955	c.7881G>A	c.(7879-7881)caG>caA	p.Q2627Q		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2627										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TGGCAGCATTCTGCATTAGGA	0.378000													6	138					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	36202279	36202279	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr13:36202279A>T	ENST00000400445.3	+	49	8045	c.7511A>T	c.(7510-7512)tAt>tTt	p.Y2504F	NBEA_ENST00000537702.1_Missense_Mutation_p.Y297F|NBEA_ENST00000540320.1_Missense_Mutation_p.Y2504F|NBEA_ENST00000379939.2_Missense_Mutation_p.Y2501F|NBEA_ENST00000379922.3_Missense_Mutation_p.Y61F|NBEA_ENST00000310336.4_Missense_Mutation_p.Y2504F	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2504	BEACH.					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ATATTTGGCTATAAGCAGCGA	0.423000													5	20					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378000	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			15	77					0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248039717	248039717	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr1:248039717A>G	ENST00000366481.3	+	6	1435	c.1387A>G	c.(1387-1389)Ata>Gta	p.I463V	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	463	B30.2/SPRY.					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)			ACCCACAACAATAGCAGGGTC	0.423000													18	127					0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16681427	16681427	+	Missense_Mutation	SNP	T	T	G			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr5:16681427T>G	ENST00000513610.1	-	32	4829	c.4375A>C	c.(4375-4377)Aaa>Caa	p.K1459Q	MYO10_ENST00000274203.9_Missense_Mutation_p.K816Q|MYO10_ENST00000505695.1_Missense_Mutation_p.K798Q|MYO10_ENST00000515803.1_Missense_Mutation_p.K798Q|MYO10_ENST00000427430.2_Missense_Mutation_p.K816Q	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1459	PH 2.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CCTGTCTCTTTGAATATCTTC	0.512000													7	96					0	0	1	0	0
PTBP2	58155	broad.mit.edu	37	1	97278356	97278356	+	Silent	SNP	G	G	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr1:97278356G>A	ENST00000236228.6	+	12	1342	c.1260G>A	c.(1258-1260)gaG>gaA	p.E420E	PTBP2_ENST00000541987.1_3'UTR|PTBP2_ENST00000370197.1_Silent_p.E425E|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000370198.1_Silent_p.E425E|PTBP2_ENST00000426398.2_Silent_p.E420E|PTBP2_ENST00000394184.3_Silent_p.E436E	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	420							nucleotide binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		TACCTCGAGAGGGACTTGATG	0.348000													6	67					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179650817	179650817	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr2:179650817C>A	ENST00000589042.1	-	14	2352	c.2128G>T	c.(2128-2130)Gac>Tac	p.D710Y	TTN_ENST00000342992.6_Missense_Mutation_p.D710Y|TTN_ENST00000342175.6_Missense_Mutation_p.D664Y|TTN_ENST00000360870.5_Missense_Mutation_p.D710Y|TTN_ENST00000460472.2_Missense_Mutation_p.D664Y|TTN_ENST00000591111.1_Missense_Mutation_p.D710Y|TTN_ENST00000359218.5_Missense_Mutation_p.D664Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	710							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)			CGGGCCTGGTCTACTGCAGCA	0.493000													8	31					0.000157383	0.000178845	1	1	0
NRDE2	55051	broad.mit.edu	37	14	90778852	90778852	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr14:90778852C>T	ENST00000354366.3	-	4	675	c.443G>A	c.(442-444)cGc>cAc	p.R148H	NRDE2_ENST00000357904.3_5'UTR	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing																		CCAAACAAAGCGATGTCCAGT	0.473000													8	154					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133953596	133953596	+	Splice_Site	SNP	G	G	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr8:133953596G>T	ENST00000220616.4	+	26	5082	c.5041_splice	c.e26-1	p.G1681_splice	TG_ENST00000542445.1_Intron|TG_ENST00000377869.1_Splice_Site_p.G1624_splice	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1681					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TTTCCCCCAGGCCAAGGATCC	0.453000													44	90					1.23103e-26	1.70032e-26	1	1	0
NR3C1	2908	broad.mit.edu	37	5	142680131	142680131	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr5:142680131T>A	ENST00000343796.2	-	5	2659	c.1666A>T	c.(1666-1668)Act>Tct	p.T556S	NR3C1_ENST00000424646.2_Missense_Mutation_p.T530S|NR3C1_ENST00000503201.1_Missense_Mutation_p.T556S|NR3C1_ENST00000231509.3_Missense_Mutation_p.T557S|NR3C1_ENST00000394464.2_Missense_Mutation_p.T556S|NR3C1_ENST00000416954.2_Missense_Mutation_p.T159S|NR3C1_ENST00000415690.2_Missense_Mutation_p.T556S|NR3C1_ENST00000504572.1_Missense_Mutation_p.T557S|NR3C1_ENST00000504336.1_5'UTR|NR3C1_ENST00000394466.2_Missense_Mutation_p.T557S	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	556	Steroid-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	ATCCTCCAAGTTGAGTCTGGA	0.458000													26	245					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9086080	9086080	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr19:9086080G>T	ENST00000397910.4	-	1	5938	c.5735C>A	c.(5734-5736)cCt>cAt	p.P1912H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1912	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						TGAGGTCTCAGGTCGGGGATG	0.473000													4	47					0.014758	0.0155021	1	1	0
LPHN3	23284	broad.mit.edu	37	4	62453109	62453109	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr4:62453109G>T	ENST00000512091.1	+	4	967	c.220G>T	c.(220-222)Gag>Tag	p.E74*	LPHN3_ENST00000508946.1_Nonsense_Mutation_p.E74*|LPHN3_ENST00000509896.1_Nonsense_Mutation_p.E142*|LPHN3_ENST00000511324.1_Nonsense_Mutation_p.E142*|LPHN3_ENST00000504896.1_Nonsense_Mutation_p.E74*|LPHN3_ENST00000507164.1_Nonsense_Mutation_p.E142*|LPHN3_ENST00000506746.1_Nonsense_Mutation_p.E142*|LPHN3_ENST00000545650.1_Nonsense_Mutation_p.E74*|LPHN3_ENST00000506700.1_Nonsense_Mutation_p.E74*|LPHN3_ENST00000506720.1_Nonsense_Mutation_p.E142*|LPHN3_ENST00000514996.1_Nonsense_Mutation_p.E74*|LPHN3_ENST00000508693.1_Nonsense_Mutation_p.E142*|LPHN3_ENST00000514591.1_Nonsense_Mutation_p.E74*|LPHN3_ENST00000514157.1_Nonsense_Mutation_p.E74*|LPHN3_ENST00000507625.1_Nonsense_Mutation_p.E142*			Q9HAR2	LPHN3_HUMAN	latrophilin 3	74	SUEL-type lectin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TGCTCAGATGGAGAATATCCG	0.393000													4	34					0.00909568	0.00975931	1	1	0
RP1L1	94137	broad.mit.edu	37	8	10466071	10466071	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr8:10466071G>T	ENST00000382483.3	-	4	5760	c.5537C>A	c.(5536-5538)cCa>cAa	p.P1846Q		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1846					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)		TTCTGACTCTGGCTGGGCCTC	0.632000													105	281					1.10825e-40	1.55653e-40	1	1	0
PKHD1	5314	broad.mit.edu	37	6	51751996	51751996	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr6:51751996C>A	ENST00000371117.3	-	44	7319	c.7044G>T	c.(7042-7044)atG>atT	p.M2348I	PKHD1_ENST00000340994.4_Missense_Mutation_p.M2348I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2348					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)					TTTGGTTGGTCATGAGATGGA	0.408000													10	69					0.010729	0.0114626	1	1	0
SCN9A	6335	broad.mit.edu	37	2	167142965	167142965	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr2:167142965C>T	ENST00000303354.6	-	11	1826	c.1486G>A	c.(1486-1488)Gga>Aga	p.G496R	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.G495R|SCN9A_ENST00000409435.1_Missense_Mutation_p.G495R|SCN9A_ENST00000375387.4_Missense_Mutation_p.G496R			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	495						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TCAGCATCTCCCTTTTCCTCT	0.408000													10	130					0	0	1	0	0
USP53	54532	broad.mit.edu	37	4	120166510	120166510	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr4:120166510A>G	ENST00000450251.1	+	2	707	c.163A>G	c.(163-165)Ata>Gta	p.I55V	USP53_ENST00000274030.6_Missense_Mutation_p.I55V			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	55					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						GCAATTGGATATATTCCGACG	0.333000													14	82					0	0	1	0	0
TP53I11	9537	broad.mit.edu	37	11	44956548	44956548	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr11:44956548C>T	ENST00000533940.1	-	10	1061	c.457G>A	c.(457-459)Gag>Aag	p.E153K	TP53I11_ENST00000395648.3_Missense_Mutation_p.E153K|TP53I11_ENST00000525680.1_Missense_Mutation_p.E153K|TP53I11_ENST00000308212.5_Missense_Mutation_p.E153K	NM_001258320.1	NP_001245249.1	O14683	P5I11_HUMAN	tumor protein p53 inducible protein 11	153					negative regulation of cell proliferation|response to stress	integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5						AGGCCCGTCTCAGCTAGCGTG	0.617000													11	105					0	0	1	0	0
ERCC8	1161	broad.mit.edu	37	5	60195454	60195454	+	Splice_Site	SNP	C	C	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr5:60195454C>T	ENST00000426742.2	-	9	978	c.544_splice	c.e9+1	p.A182_splice	ERCC8_ENST00000462279.1_5'UTR|ERCC8_ENST00000543101.1_Splice_Site_p.A87_splice|ERCC8_ENST00000265038.5_Splice_Site_p.A240_splice			Q13216	ERCC8_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 8	240					positive regulation of DNA repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein polyubiquitination|response to oxidative stress|response to UV|transcription-coupled nucleotide-excision repair	Cul4A-RING ubiquitin ligase complex|nuclear matrix|nucleoplasm|nucleotide-excision repair complex|soluble fraction	protein binding|protein complex binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)				TCTTCCTTACCTGATTCAACA	0.313000													23	143					0	0	1	0	0
AKAP11	11215	broad.mit.edu	37	13	42888032	42888032	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr13:42888032A>G	ENST00000025301.2	+	11	5535	c.5360A>G	c.(5359-5361)gAt>gGt	p.D1787G		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1787					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TTCATAAGTGATGGACCAGAT	0.289000													8	58					0	0	1	0	0
AP1B1	162	broad.mit.edu	37	22	29735036	29735036	+	Silent	SNP	G	G	C			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr22:29735036G>C	ENST00000357586.2	-	16	2292	c.2106C>G	c.(2104-2106)ctC>ctG	p.L702L	AP1B1_ENST00000415447.1_Silent_p.L695L|AP1B1_ENST00000317368.7_Silent_p.L695L|AP1B1_ENST00000432560.2_Silent_p.L695L|AP1B1_ENST00000356015.2_Silent_p.L695L|AP1B1_ENST00000405198.1_Silent_p.L702L|AP1B1_ENST00000472057.1_5'UTR|AP1B1_ENST00000402502.1_Silent_p.L695L	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	702	Pro-rich (stalk region).				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TCAGGTCAAAGAGGTCACTCA	0.572000													12	154					0	0	1	0	0
ADAM12	8038	broad.mit.edu	37	10	127798373	127798373	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr10:127798373C>A	ENST00000368679.4	-	7	958	c.649G>T	c.(649-651)Gag>Tag	p.E217*	ADAM12_ENST00000368676.4_Nonsense_Mutation_p.E217*	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	217	Peptidase M12B.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		ATCACCAGCTCCACATACTTA	0.393000													7	102					8.12818e-05	9.32131e-05	1	1	0
ITGA8	8516	broad.mit.edu	37	10	15614366	15614366	+	Silent	SNP	C	C	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr10:15614366C>T	ENST00000378076.3	-	25	2834	c.2481G>A	c.(2479-2481)ctG>ctA	p.L827L		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	827					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						CAATATTGTGCAGCTGTAAAC	0.403000													11	71					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25486747	25486747	+	RNA	SNP	C	C	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr15:25486747C>T	ENST00000453082.2	+	0	2066					NR_003343.1																						CCCACTTTTCCTGGGCCAGTG	0.597000													6	49					0	0	1	0	0
HPR	3250	broad.mit.edu	37	16	72110963	72110963	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr16:72110963A>T	ENST00000540303.2	+	5	1062	c.1030A>T	c.(1030-1032)Acc>Tcc	p.T344S	HPR_ENST00000356967.5_Missense_Mutation_p.T344S|HPR_ENST00000228226.8_Missense_Mutation_p.T381S|HPR_ENST00000561690.1_3'UTR	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	344	Peptidase S1.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				GGTTCAGAAGACCATAGCTGA	0.537000													9	76					0	0	1	0	0
PAH	5053	broad.mit.edu	37	12	103248983	103248983	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr12:103248983G>A	ENST00000553106.1	-	6	1109	c.637C>T	c.(637-639)Ctt>Ttt	p.L213F	PAH_ENST00000307000.2_Missense_Mutation_p.L208F	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	213			L -> P (in PKU; severe).		catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	TACTTTTCAAGAAGTGGAAAA	0.443000													13	77					0	0	1	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090679	238090679	+	RNA	SNP	G	G	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr1:238090679G>A	ENST00000450451.1	+	0	2185					NR_027247.2																						GGACCTGGCTGGCAGGGACCT	0.612000													8	36					0	0	1	0	0
H1F0	3005	broad.mit.edu	37	22	38201991	38201991	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr22:38201991A>G	ENST00000340857.2	+	1	878	c.440A>G	c.(439-441)aAg>aGg	p.K147R		NM_005318.3	NP_005309.1	P07305	H10_HUMAN	H1 histone family, member 0	147					DNA fragmentation involved in apoptotic nuclear change|nucleosome assembly	actin cytoskeleton|Golgi apparatus|nucleoplasm|nucleosome	DNA binding			cervix(1)|endometrium(1)|kidney(2)|prostate(2)|urinary_tract(1)	7	Melanoma(58;0.045)					AAGAAGGCCAAGAAGAAGCTG	0.537000													13	85					0	0	1	0	0
VDAC2	7417	broad.mit.edu	37	10	76989401	76989401	+	Splice_Site	SNP	G	G	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr10:76989401G>A	ENST00000535553.1	+	10	974		c.e10-1		VDAC2_ENST00000313132.4_Splice_Site|VDAC2_ENST00000332211.6_Splice_Site|VDAC2_ENST00000543351.1_Splice_Site			P45880	VDAC2_HUMAN	voltage-dependent anion channel 2							mitochondrial nucleoid|mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	10	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)				Dihydroxyaluminium(DB01375)	TTTTATTTTAGGCAAAAGTCA	0.323000													6	52					0	0	1	0	0
ZNF304	57343	broad.mit.edu	37	19	57868948	57868948	+	Missense_Mutation	SNP	A	A	G			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr19:57868948A>G	ENST00000391705.3	+	4	1995	c.1711A>G	c.(1711-1713)Agc>Ggc	p.S571G	ZNF304_ENST00000598744.1_Missense_Mutation_p.S529G|ZNF304_ENST00000443917.2_Missense_Mutation_p.S618G|ZNF304_ENST00000282286.5_Missense_Mutation_p.S571G	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	571					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		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;0.0265)		TTACATTAGTAGCTCCCACCT	0.468000													10	66					0	0	1	0	0
CPT1A	1374	broad.mit.edu	37	11	68529098	68529098	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr11:68529098G>A	ENST00000265641.5	-	16	2087	c.1933C>T	c.(1933-1935)Cgc>Tgc	p.R645C	CPT1A_ENST00000539743.1_Missense_Mutation_p.R645C|CPT1A_ENST00000376618.2_Missense_Mutation_p.R645C|CPT1A_ENST00000540367.1_Missense_Mutation_p.R645C	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	645					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	ATGGCGAGGCGATACATATGC	0.493000													9	225					0	0	1	0	0
SLC20A2	6575	broad.mit.edu	37	8	42294715	42294715	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr8:42294715C>A	ENST00000342228.3	-	8	1684	c.1315G>T	c.(1315-1317)Gcg>Tcg	p.A439S	SLC20A2_ENST00000520179.1_Missense_Mutation_p.A439S|SLC20A2_ENST00000520262.1_Missense_Mutation_p.A439S	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	439					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TCTGCCACCGCGTTACAGTAG	0.652000													9	95					7.48243e-07	9.03675e-07	1	1	0
CIT	11113	broad.mit.edu	37	12	120214502	120214502	+	Missense_Mutation	SNP	T	T	G			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr12:120214502T>G	ENST00000392521.2	-	14	1865	c.1810A>C	c.(1810-1812)Aca>Cca	p.T604P	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.T604P	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	604					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TGACATTCTGTCGCTTTCCGC	0.463000													20	81					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179567187	179567187	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr2:179567187C>T	ENST00000589042.1	-	107	30651	c.30427G>A	c.(30427-30429)Gat>Aat	p.D10143N	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D8899N|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D9826N|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9826	Glu-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCACCTTCATCGTCTGGGGTC	0.423000													17	247					0	0	1	0	0
ATP8A2	51761	broad.mit.edu	37	13	26343364	26343364	+	Silent	SNP	A	A	G			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr13:26343364A>G	ENST00000381655.2	+	26	2707	c.2565A>G	c.(2563-2565)gcA>gcG	p.A855A	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Silent_p.A815A	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	815					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		ACGCCATCGCACAGGTCAGCA	0.572000													20	66					0	0	1	0	0
LCOR	84458	broad.mit.edu	37	10	98715318	98715318	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr10:98715318C>T	ENST00000540664.1	+	8	1484	c.941C>T	c.(940-942)tCa>tTa	p.S314L	LCOR_ENST00000498444.1_Intron|LCOR_ENST00000356016.3_Missense_Mutation_p.S314L|LCOR_ENST00000371103.3_Missense_Mutation_p.S314L|LCOR_ENST00000371097.4_Missense_Mutation_p.S314L	NM_001170765.1|NM_001170766.1	NP_001164236.1|NP_001164237.1			ligand dependent nuclear receptor corepressor											endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		TCTTGGGGCTCAGATGCTGAG	0.488000													5	46					0	0	1	0	0
ACCS	84680	broad.mit.edu	37	11	44089220	44089220	+	Missense_Mutation	SNP	T	T	G			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr11:44089220T>G	ENST00000263776.8	+	2	477	c.43T>G	c.(43-45)Tgt>Ggt	p.C15G	ACCS_ENST00000432284.2_Missense_Mutation_p.C15G|ACCS_ENST00000533208.1_3'UTR	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	15							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						TCCCACCACCTGTCTGGGCCC	0.552000													12	92					0	0	1	0	0
CBL	867	broad.mit.edu	37	11	119142461	119142461	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr11:119142461C>G	ENST00000264033.4	+	3	836	c.460C>G	c.(460-462)Ctg>Gtg	p.L154V		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	154	4H.|Cbl-PTB.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CCTAACCAAACTGTCCCTCAT	0.363000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				6	85					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32064693	32064693	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr6:32064693G>A	ENST00000375244.3	-	3	1138	c.937C>T	c.(937-939)Cgg>Tgg	p.R313W	TNXB_ENST00000479795.1_Missense_Mutation_p.R313W|TNXB_ENST00000375247.2_Missense_Mutation_p.R313W			P22105	TENX_HUMAN	tenascin XB	313	EGF-like 6.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTGCAGCCCCGAGGGCAGCTC	0.697000													3	10					0	0	1	0	0
LINC00886	730091	broad.mit.edu	37	3	156528401	156528401	+	RNA	SNP	G	G	A	rs9812169	by1000genomes	TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr3:156528401G>A	ENST00000472943.1	-	0	148					NR_038387.1																						ACACACCTGAGCTAGATGCTT	0.483000													4	72					0	0	1	0	0
KRTAP24-1	643803	broad.mit.edu	37	21	31655256	31655256	+	Translation_Start_Site	SNP	G	G	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr21:31655256G>T	ENST00000340345.4	-	0	20					NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1							keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						GGCATGCTCAGTGGTCGCTGT	0.502000													4	32					1.23904e-05	1.47505e-05	1	1	0
IGLV2-23	28813	broad.mit.edu	37	22	23040598	23040598	+	RNA	SNP	G	G	C			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr22:23040598G>C	ENST00000390306.2	+	0	208																											CCTCTTTCCAGGGTCCTGGGC	0.617000													23	132					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33546236	33546236	+	Silent	SNP	T	T	C			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr5:33546236T>C	ENST00000504830.1	-	22	4709	c.4374A>G	c.(4372-4374)acA>acG	p.T1458T	ADAMTS12_ENST00000352040.3_Silent_p.T1373T	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1458	TSP type-1 7.				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						TGGGTCTTTTTGTCCAATCAC	0.498000										HNSCC(64;0.19)			25	63					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8999024	8999024	+	Splice_Site	SNP	C	C	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr19:8999024C>A	ENST00000397910.4	-	57	41023		c.e57+1		MUC16_ENST00000380951.5_Splice_Site	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated						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						TGGATACTCACTGCTAGTGGT	0.537000													4	31					0.00909568	0.00975931	1	1	0
NXPE2	120406	broad.mit.edu	37	11	114569398	114569398	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr11:114569398G>C	ENST00000375475.5	+	3	862	c.764G>C	c.(763-765)tGt>tCt	p.C255S	NXPE2_ENST00000389586.4_Missense_Mutation_p.C255S					neurexophilin and PC-esterase domain family, member 2																		GCCTTCTACTGTGTGAGGCCT	0.468000													7	50					0	0	1	0	0
KIF3C	3797	broad.mit.edu	37	2	26152910	26152910	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr2:26152910G>A	ENST00000264712.3	-	6	2608	c.2029C>T	c.(2029-2031)Cgg>Tgg	p.R677W	KIF3C_ENST00000405914.1_Missense_Mutation_p.R677W|KIF3C_ENST00000496378.1_5'UTR	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN	kinesin family member 3C	677	Globular (Potential).				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATGTTGGCCGCTTCTTCATC	0.498000													11	116					0	0	1	0	0
MIR296	407022	broad.mit.edu	37	20	57392721	57392721	+	RNA	SNP	A	A	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr20:57392721A>T	ENST00000385215.1	-	0	28					NR_029844.1																						GCACAACAGGATTGAGGGGGG	0.577000													6	40					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186278054	186278054	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr1:186278054T>C	ENST00000445192.2	+	7	3248	c.3203T>C	c.(3202-3204)aTa>aCa	p.I1068T	PRG4_ENST00000367483.4_Missense_Mutation_p.I1027T|PRG4_ENST00000367485.4_Missense_Mutation_p.I975T|PRG4_ENST00000367484.3_Missense_Mutation_p.I597T|PRG4_ENST00000367486.3_Missense_Mutation_p.I1025T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	1068					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						ACCTCAAGAATAGCAGAAGCC	0.443000													12	123					0	0	1	0	0
SLC6A11	6538	broad.mit.edu	37	3	10886026	10886026	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr3:10886026G>A	ENST00000254488.2	+	5	817	c.751G>A	c.(751-753)Gga>Aga	p.G251R		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	251					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		CAAGTCTACAGGAAAGGTAAG	0.542000													5	48					0	0	1	0	0
CSGALNACT2	55454	broad.mit.edu	37	10	43650598	43650598	+	Translation_Start_Site	SNP	A	A	G			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr10:43650598A>G	ENST00000374466.3	+	2	336	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	CSGALNACT2_ENST00000374464.1_Start_Codon_SNP_p.M1V	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	1					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ATTAATAAGAATGCCTAGAAG	0.363000													8	51					0	0	1	0	0
MIRLET7A2	406882	broad.mit.edu	37	11	122017283	122017283	+	RNA	SNP	C	C	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr11:122017283C>A	ENST00000362105.1	-	0	18					NR_029477.1																						CTAAACTATACAACCTACTAC	0.408000													7	66					0.00198382	0.00218482	1	1	0
MCOLN2	255231	broad.mit.edu	37	1	85462516	85462516	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr1:85462516G>T	ENST00000370608.3	-	1	107	c.40C>A	c.(40-42)Ccg>Acg	p.P14T	MCOLN2_ENST00000284027.5_Intron|MCOLN2_ENST00000531325.1_5'UTR	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	14						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		CCTCTCTCCGGAATCCTTGCC	0.532000													7	61					0.00198382	0.00218482	1	1	0
UHRF1BP1	54887	broad.mit.edu	37	6	34789490	34789490	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr6:34789490G>T	ENST00000192788.5	+	2	276	c.105G>T	c.(103-105)caG>caT	p.Q35H	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.Q35H	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	35										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GGGAGGGTCAGCTGACCAACC	0.493000													8	55					1.06961e-07	1.3108e-07	1	1	0
GPR112	139378	broad.mit.edu	37	X	135426725	135426725	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chrX:135426725C>G	ENST00000394143.1	+	6	1151	c.860C>G	c.(859-861)tCc>tGc	p.S287C	GPR112_ENST00000287534.4_Missense_Mutation_p.S224C|GPR112_ENST00000370652.1_Missense_Mutation_p.S287C|GPR112_ENST00000394141.1_Missense_Mutation_p.S82C|GPR112_ENST00000412101.1_Missense_Mutation_p.S82C	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	287					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)					ATATCATATTCCAATACAACA	0.358000													10	82					0	0	1	0	0
GNAI1	2770	broad.mit.edu	37	7	79818422	79818422	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr7:79818422G>T	ENST00000351004.3	+	3	551	c.178G>T	c.(178-180)Ggt>Tgt	p.G60C	GNAI1_ENST00000457358.2_Missense_Mutation_p.G8C|GNAI1_ENST00000490206.1_3'UTR	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	60					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						CCATGAAGCTGGTTATTCAGA	0.358000													5	48					0.014758	0.0155021	1	1	0
TTC21A	199223	broad.mit.edu	37	3	39156148	39156148	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr3:39156148G>T	ENST00000301819.6	+	6	808	c.631G>T	c.(631-633)Ggg>Tgg	p.G211W	TTC21A_ENST00000440121.1_Missense_Mutation_p.G170W|TTC21A_ENST00000431162.2_Missense_Mutation_p.G211W	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	211							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TGTGACTTCAGGGAGCTTCCT	0.552000													20	138					9.7654e-05	0.000111477	1	1	0
ANKLE2	23141	broad.mit.edu	37	12	133324548	133324548	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr12:133324548C>A	ENST00000539605.1	-	4	7598	c.914G>T	c.(913-915)tGc>tTc	p.C305F	ANKLE2_ENST00000357997.5_Missense_Mutation_p.C367F|ANKLE2_ENST00000337516.5_Missense_Mutation_p.C367F			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	367						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		AGTCAGCTGGCAGATGGAAGC	0.537000													15	72					2.62699e-14	3.54998e-14	1	1	0
SEMA3E	9723	broad.mit.edu	37	7	83095804	83095804	+	Silent	SNP	A	A	G			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr7:83095804A>G	ENST00000307792.3	-	4	917	c.450T>C	c.(448-450)caT>caC	p.H150H	SEMA3E_ENST00000427262.1_Silent_p.H90H	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	150	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TTACCTCCAAATGATATCCAA	0.378000													7	62					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70894023	70894023	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr16:70894023G>A	ENST00000393567.2	-	71	12227	c.12077C>T	c.(12076-12078)gCa>gTa	p.A4026V		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4026			A -> T (in dbSNP:rs11075798).							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)				GCATGTGAATGCTGCAGGGTT	0.488000													13	70					0	0	1	0	0
XRN1	54464	broad.mit.edu	37	3	142098971	142098971	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr3:142098971T>A	ENST00000264951.4	-	23	2785	c.2668A>T	c.(2668-2670)Agc>Tgc	p.S890C	XRN1_ENST00000392981.2_Missense_Mutation_p.S890C	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	890					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						CATGGAATGCTGAAAATCACA	0.318000													9	71					0	0	1	0	0
SNTG1	54212	broad.mit.edu	37	8	51664586	51664586	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr8:51664586C>T	ENST00000522124.1	+	18	1971	c.1310C>T	c.(1309-1311)tCt>tTt	p.S437F	SNTG1_ENST00000518864.1_Missense_Mutation_p.S437F|SNTG1_ENST00000517473.1_Intron|SNTG1_ENST00000276467.5_Intron	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	437					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)				TATAAATTCTCTCAGCTTAAA	0.338000													9	143					0	0	1	0	0
SLC9A7P1	121456	broad.mit.edu	37	12	98849563	98849563	+	RNA	SNP	A	A	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr12:98849563A>T	ENST00000554295.1	-	0	1360					NR_033801.1																						GCCCAGGAAGACAGCAACAAA	0.483000													7	69					0	0	1	0	0
DDX11	1663	broad.mit.edu	37	12	31256834	31256834	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr12:31256834T>C	ENST00000407793.2	+	27	3031	c.2780T>C	c.(2779-2781)tTt>tCt	p.F927S	DDX11_ENST00000545668.1_Missense_Mutation_p.F927S|DDX11_ENST00000542838.1_3'UTR|DDX11_ENST00000350437.4_3'UTR|DDX11_ENST00000228264.6_3'UTR|DDX11_ENST00000251758.5_3'UTR	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	927					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GAGACAGTGTTTGTCGTGGGC	0.617000										Multiple Myeloma(12;0.14)			11	66					0	0	1	0	0
PLCD1	5333	broad.mit.edu	37	3	38050763	38050763	+	Splice_Site	SNP	C	C	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr3:38050763C>T	ENST00000463876.1	-	10	2022	c.1669_splice	c.e10+1	p.G557_splice	PLCD1_ENST00000334661.4_Splice_Site_p.G536_splice	NM_001130964.1	NP_001124436.1	P51178	PLCD1_HUMAN	phospholipase C, delta 1	536	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CAGGCCTCACCTGATTCTTGG	0.617000													23	91					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50953495	50953495	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr10:50953495G>T	ENST00000374103.4	-	12	1609	c.1524C>A	c.(1522-1524)ttC>ttA	p.F508L	OGDHL_ENST00000419399.1_Missense_Mutation_p.F451L|OGDHL_ENST00000432695.1_Missense_Mutation_p.F299L	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	508					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GCGGCTGGGTGAACATGGGCT	0.597000													6	64					0.0215528	0.0223576	1	1	0
C15orf39	56905	broad.mit.edu	37	15	75499660	75499660	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr15:75499660A>T	ENST00000360639.2	+	2	1591	c.1271A>T	c.(1270-1272)cAg>cTg	p.Q424L	C15orf39_ENST00000394987.4_Missense_Mutation_p.Q424L|C15orf39_ENST00000567617.1_Missense_Mutation_p.Q424L			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	424										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CCAGCGAGCCAGCCCTGCTCA	0.642000													11	79					0	0	1	0	0
DTX2	113878	broad.mit.edu	37	7	76109901	76109901	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr7:76109901G>T	ENST00000324432.5	+	4	585	c.75G>T	c.(73-75)caG>caT	p.Q25H	DTX2_ENST00000413936.2_Missense_Mutation_p.Q25H|DTX2_ENST00000430490.2_Missense_Mutation_p.Q25H|DTX2_ENST00000307569.8_Missense_Mutation_p.Q25H|DTX2_ENST00000446600.1_Intron|DTX2_ENST00000472426.1_3'UTR|DTX2_ENST00000446820.2_Missense_Mutation_p.Q25H	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	25	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						GGGAATGGCAGGACGGGCTGG	0.647000													8	27					2.17888e-05	2.56943e-05	1	1	0
IKBKAP	8518	broad.mit.edu	37	9	111689719	111689719	+	Silent	SNP	C	C	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr9:111689719C>T	ENST00000374647.5	-	4	625	c.318G>A	c.(316-318)ggG>ggA	p.G106G	IKBKAP_ENST00000537196.1_Intron	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	106					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TGGCTACACTCCCAACACACT	0.423000													13	74					0	0	1	0	0
EEF1A1	1915	broad.mit.edu	37	6	74228304	74228304	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr6:74228304C>G	ENST00000316292.9	-	5	1793	c.802G>C	c.(802-804)Gag>Cag	p.E268Q	EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000309268.6_Missense_Mutation_p.E268Q|EEF1A1_ENST00000331523.2_Missense_Mutation_p.E268Q	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	268						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						ACACCAGTCTCCACTCGGCCA	0.418000											OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	5	60					0	0	1	0	0
SLC6A13	6540	broad.mit.edu	37	12	332396	332396	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr12:332396C>T	ENST00000343164.4	-	12	1368	c.1316G>A	c.(1315-1317)gGa>gAa	p.G439E	SLC6A13_ENST00000445055.2_Missense_Mutation_p.G347E|SLC6A13_ENST00000539668.1_5'UTR	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	439					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)			CACGTACATTCCGCCCTGCAT	0.498000													4	47					0	0	1	0	0
LMO4	8543	broad.mit.edu	37	1	87797801	87797801	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr1:87797801C>G	ENST00000370544.5	+	2	883	c.103C>G	c.(103-105)Ctg>Gtg	p.L35V	LMO4_ENST00000370542.1_Missense_Mutation_p.L35V|LMO4_ENST00000489303.1_3'UTR	NM_006769.3	NP_006760.1	P61968	LMO4_HUMAN	LIM domain only 4	35	LIM zinc-binding 1.				neural tube closure|transcription from RNA polymerase II promoter	transcription factor complex	sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(1)	9		Lung NSC(277;0.179)		all cancers(265;0.00456)|Epithelial(280;0.0148)|BRCA - Breast invasive adenocarcinoma(282;0.153)		GGACCGCTTTCTGCTCTATGC	0.662000													5	44					0	0	1	0	0
LYZL2	119180	broad.mit.edu	37	10	30915771	30915771	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr10:30915771C>T	ENST00000375318.2	-	2	268	c.212G>A	c.(211-213)tGc>tAc	p.C71Y		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	25					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				TGCCAGTTTGCAACGAGTGTA	0.517000													6	130					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69684698	69684698	+	Silent	SNP	G	G	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr6:69684698G>T	ENST00000370598.1	+	9	2390	c.1569G>T	c.(1567-1569)gtG>gtT	p.V523V		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	523					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TGTCGATGGTGTGGAAAAGAA	0.428000													17	62					0.00074312	0.000836847	1	1	0
AP1M1	8907	broad.mit.edu	37	19	16319899	16319899	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr19:16319899G>A	ENST00000291439.3	+	5	906	c.457G>A	c.(457-459)Gtc>Atc	p.V153I	AP1M1_ENST00000590756.1_Missense_Mutation_p.V81I|AP1M1_ENST00000429941.2_Missense_Mutation_p.V153I|AP1M1_ENST00000541844.1_Missense_Mutation_p.V81I|AP1M1_ENST00000444449.2_Missense_Mutation_p.V153I	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	153					cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						ACCAGCCACCGTCACCAACGC	0.597000													13	69					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215855593	215855593	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr2:215855593C>A	ENST00000272895.7	-	24	3676	c.3457G>T	c.(3457-3459)Gac>Tac	p.D1153Y	ABCA12_ENST00000389661.4_Missense_Mutation_p.D835Y	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1153					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AAGCTGTAGTCCGAAAAATAC	0.393000													14	97					0.105934	0.109436	1	1	0
PDZD2	23037	broad.mit.edu	37	5	32090217	32090217	+	Silent	SNP	G	G	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr5:32090217G>A	ENST00000438447.1	+	20	7051	c.6663G>A	c.(6661-6663)agG>agA	p.R2221R	PDZD2_ENST00000282493.3_Silent_p.R2221R			O15018	PDZD2_HUMAN	PDZ domain containing 2	2221					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						CAGCGACCAGGACCTACTCCA	0.632000													35	467					0	0	1	0	0
ABL2	27	broad.mit.edu	37	1	179100521	179100521	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr1:179100521C>T	ENST00000502732.1	-	3	519	c.316G>A	c.(316-318)Gag>Aag	p.E106K	ABL2_ENST00000367623.4_Missense_Mutation_p.E85K|ABL2_ENST00000344730.3_Missense_Mutation_p.E91K|ABL2_ENST00000512653.1_Missense_Mutation_p.E91K|ABL2_ENST00000507173.1_Missense_Mutation_p.E85K|ABL2_ENST00000504405.1_Missense_Mutation_p.E70K|ABL2_ENST00000408940.3_Missense_Mutation_p.E70K|ABL2_ENST00000392043.3_Missense_Mutation_p.E85K|ABL2_ENST00000511413.1_Missense_Mutation_p.E106K	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	106	CAP.				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)	GGGTCACTCTCAGTGGCTCCG	0.463000			T	ETV6	AML								12	69					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	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.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|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)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			5	24					0	0	1	0	0
SRFBP1	153443	broad.mit.edu	37	5	121309952	121309952	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr5:121309952G>A	ENST00000339397.4	+	2	170	c.98G>A	c.(97-99)aGg>aAg	p.R33K		NM_152546.2	NP_689759.2	Q8NEF9	SRFB1_HUMAN	serum response factor binding protein 1	33					regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		AAACTTGTCAGGAGTGTTGGC	0.303000													3	33					0	0	1	0	0
CD300LG	146894	broad.mit.edu	37	17	41926224	41926224	+	Silent	SNP	C	C	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr17:41926224C>T	ENST00000317310.4	+	2	383	c.342C>T	c.(340-342)ccC>ccT	p.P114P	CD300LG_ENST00000588884.1_Silent_p.P114P|CD300LG_ENST00000377203.4_Silent_p.P114P|CD300LG_ENST00000586233.1_Silent_p.P114P|CD300LG_ENST00000539718.1_Silent_p.P114P|CD300LG_ENST00000293396.8_Silent_p.P114P	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	114	Ig-like V-type.					apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity			central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		AACGGGGCCCCGATGAGTCTT	0.587000													7	97					0	0	1	0	0
OR11H6	122748	broad.mit.edu	37	14	20692722	20692722	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr14:20692722C>T	ENST00000315519.2	+	1	932	c.854C>T	c.(853-855)cCa>cTa	p.P285L		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TCAGGGAACCCAGCAGGAATG	0.438000													23	123					0	0	1	0	0
NOX5	79400	broad.mit.edu	37	15	69327747	69327747	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr15:69327747A>T	ENST00000260364.5	+	7	1156	c.855A>T	c.(853-855)caA>caT	p.Q285H	NOX5_ENST00000388866.3_Missense_Mutation_p.Q303H|NOX5_ENST00000455873.3_Missense_Mutation_p.Q268H|NOX5_ENST00000448182.3_Missense_Mutation_p.Q257H|NOX5_ENST00000530406.2_Missense_Mutation_p.Q275H			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	303					angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GGCTGGCTCAAGTCCTACCAC	0.617000													8	43					0	0	1	0	0
PDE4B	5142	broad.mit.edu	37	1	66831407	66831407	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr1:66831407G>T	ENST00000423207.2	+	11	1782	c.1297G>T	c.(1297-1299)Gtt>Ttt	p.V433F	PDE4B_ENST00000371049.3_Missense_Mutation_p.V448F|PDE4B_ENST00000329654.4_Missense_Mutation_p.V448F|PDE4B_ENST00000371045.5_Missense_Mutation_p.V276F|PDE4B_ENST00000480109.2_Missense_Mutation_p.V215F	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	448					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	CATCCATGACGTTGATCATCC	0.428000													5	34					2.7689e-08	3.4439e-08	1	1	0
DNMT3L	29947	broad.mit.edu	37	21	45681097	45681097	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr21:45681097C>T	ENST00000270172.3	-	2	529	c.46G>A	c.(46-48)Gac>Aac	p.D16N	DNMT3L_ENST00000418993.1_Missense_Mutation_p.D16N	NM_013369.3	NP_037501.2	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	16					DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		AAAATCACGTCCATGCTGGGC	0.597000													9	99					0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88300586	88300586	+	Silent	SNP	G	G	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr11:88300586G>A	ENST00000418177.2	-	8	2632	c.2265C>T	c.(2263-2265)acC>acT	p.T755T	GRM5_ENST00000305447.4_Silent_p.T755T|GRM5_ENST00000305432.5_Silent_p.T755T|GRM5_ENST00000455756.2_Silent_p.T755T|GRM5_ENST00000393297.1_Silent_p.T755T			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	755					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	ACGCATAGAAGGTGCAGCTCA	0.443000													16	137					0	0	1	0	0
HIST1H1B	3009	broad.mit.edu	37	6	27834926	27834926	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr6:27834926C>A	ENST00000331442.3	-	1	433	c.382G>T	c.(382-384)Gcc>Tcc	p.A128S		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	128					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						GCTTTAGCGGCGCCTGCCTTC	0.592000													16	188					4.7546e-09	6.06455e-09	1	1	0
SLC4A3	6508	broad.mit.edu	37	2	220496696	220496696	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr2:220496696G>T	ENST00000358055.3	+	7	1330	c.818G>T	c.(817-819)cGa>cTa	p.R273L	SLC4A3_ENST00000373762.3_Missense_Mutation_p.R300L|SLC4A3_ENST00000317151.3_Missense_Mutation_p.R273L|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000373760.2_Missense_Mutation_p.R273L|SLC4A3_ENST00000273063.6_Missense_Mutation_p.R300L			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	273					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCAGGTCACCGACTGGAGGAC	0.667000													5	61					0.014758	0.0155021	1	1	0
SMARCA4	6597	broad.mit.edu	37	19	11144149	11144149	+	Missense_Mutation	SNP	C	C	G			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr19:11144149C>G	ENST00000358026.2	+	26	4014	c.3730C>G	c.(3730-3732)Cgc>Ggc	p.R1244G	SMARCA4_ENST00000429416.3_Missense_Mutation_p.R1244G|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1244G|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1244G|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1244G|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1244G|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1244G|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1244G|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1244G	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1244	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.A1245fs*13(1)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCATGAGCGGCGCGCCTTCCT	0.642000			"""F, N, Mis"""		NSCLC								15	79					0	0	1	0	0
VN1R4	317703	broad.mit.edu	37	19	53770827	53770827	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr19:53770827G>T	ENST00000311170.4	-	1	145	c.92C>A	c.(91-93)tCc>tAc	p.S31Y		NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	31					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		GCAGTAAAAGGAGAGATAATG	0.507000										HNSCC(26;0.072)			6	65					0.0215528	0.0223576	1	1	0
TNFRSF19	55504	broad.mit.edu	37	13	24242153	24242153	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr13:24242153G>C	ENST00000382263.3	+	8	955	c.771G>C	c.(769-771)gaG>gaC	p.E257D	TNFRSF19_ENST00000248484.4_Missense_Mutation_p.E257D|TNFRSF19_ENST00000382258.4_Missense_Mutation_p.E257D|TNFRSF19_ENST00000403372.2_Missense_Mutation_p.E125D	NM_001204458.1	NP_001191387.1	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	257					apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		TGTGCTGTGAGGAGGCCTGCA	0.537000													3	6					0	0	1	0	0
GBP6	163351	broad.mit.edu	37	1	89843692	89843692	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr1:89843692G>A	ENST00000370456.4	+	4	442	c.349G>A	c.(349-351)Gcc>Acc	p.A117T	GBP6_ENST00000535065.1_5'UTR	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	117							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		CTGGATCTTTGCCCTGGCTGT	0.473000													9	162					0	0	1	0	0
ZNF33B	7582	broad.mit.edu	37	10	43089103	43089103	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr10:43089103T>A	ENST00000359467.3	-	5	1409	c.1295A>T	c.(1294-1296)cAg>cTg	p.Q432L	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	432						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						GTGTGTTCTCTGATGTTTAGT	0.423000													14	129					0	0	1	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455687	187455687	+	Missense_Mutation	SNP	G	G	A	rs147539087		TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr4:187455687G>A	ENST00000307161.5	-	2	410	c.209C>T	c.(208-210)gCg>gTg	p.A70V	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	70					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	GTCTGCCACCGCTAAGCTCAC	0.453000													9	74					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16953684	16953684	+	RNA	SNP	T	T	C			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr1:16953684T>C	ENST00000412962.1	-	0	577																											GCCTGCAGCATGTCCCGTTGC	0.647000													4	64					0	0	1	0	0
CFHR1	3078	broad.mit.edu	37	1	196800951	196800951	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr1:196800951T>C	ENST00000320493.5	+	6	903	c.815T>C	c.(814-816)aTt>aCt	p.I272T	CFHR1_ENST00000367424.3_Missense_Mutation_p.I213T|CFHR2_ENST00000367421.3_Intron	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	272					complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						TCCCGAGAAATTATGGAAAAT	0.333000													12	55					0	0	1	0	0
SGMS2	166929	broad.mit.edu	37	4	108831573	108831573	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr4:108831573T>C	ENST00000394684.4	+	7	1519	c.962T>C	c.(961-963)tTt>tCt	p.F321S	RP11-286E11.1_ENST00000499098.1_RNA|RP11-286E11.1_ENST00000513071.1_RNA|SGMS2_ENST00000394686.3_Missense_Mutation_p.F321S|SGMS2_ENST00000359079.4_Missense_Mutation_p.F321S	NM_001136258.1	NP_001129730.1	Q8NHU3	SMS2_HUMAN	sphingomyelin synthase 2	321					sphingomyelin biosynthetic process	integral to Golgi membrane|integral to plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)	Choline(DB00122)	TTTTATTTTTTTGAGAAAAAT	0.398000													6	48					0	0	1	0	0
SPDYC	387778	broad.mit.edu	37	11	64940302	64940302	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr11:64940302C>T	ENST00000377185.2	+	6	746	c.664C>T	c.(664-666)Ccc>Tcc	p.P222S		NM_001008778.1	NP_001008778.1	Q5MJ68	SPDYC_HUMAN	speedy/RINGO cell cycle regulator family member C	222					cell cycle	nucleus	protein kinase binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						CTGTGGTTTGCCCCAGCACTG	0.612000													10	65					0	0	1	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161165373	161165373	+	Missense_Mutation	SNP	A	A	C			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr1:161165373A>C	ENST00000367996.4	-	4	1571	c.1143T>G	c.(1141-1143)aaT>aaG	p.N381K	ADAMTS4_ENST00000478394.1_5'UTR	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	381	Peptidase M12B.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TCAAAGGCCCATTCAAACTGA	0.567000													7	141					0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7763681	7763681	+	Missense_Mutation	SNP	G	G	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr10:7763681G>T	ENST00000358415.4	+	8	974	c.808G>T	c.(808-810)Gat>Tat	p.D270Y	ITIH2_ENST00000379587.4_Missense_Mutation_p.D259Y	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	270					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						GACTGCGGTAGATGGGGAACT	0.562000													7	110					0.00198382	0.00218482	1	1	0
KIF4A	24137	broad.mit.edu	37	X	69623832	69623832	+	Missense_Mutation	SNP	A	A	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chrX:69623832A>T	ENST00000374403.3	+	24	2820	c.2738A>T	c.(2737-2739)gAg>gTg	p.E913V	KIF4A_ENST00000374388.3_Missense_Mutation_p.E913V	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	913	Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						GCCGAGATAGAGACAGAGTTA	0.453000													7	41					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85617130	85617130	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr4:85617130G>A	ENST00000322366.6	-	57	9250	c.8843C>T	c.(8842-8844)cCt>cTt	p.P2948L	WDFY3_ENST00000295888.4_Missense_Mutation_p.P2965L			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2965	BEACH.					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TACCTGTTTAGGGATCTGACC	0.338000													8	61					0	0	1	0	0
BPIFC	254240	broad.mit.edu	37	22	32829708	32829708	+	Silent	SNP	G	G	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr22:32829708G>T	ENST00000397452.1	-	10	1086	c.976C>A	c.(976-978)Cgg>Agg	p.R326R	BPIFC_ENST00000534972.1_Silent_p.R50R|BPIFC_ENST00000300399.3_Silent_p.R326R|BPIFC_ENST00000432451.2_Silent_p.R140R			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	326						extracellular region	lipopolysaccharide binding|phospholipid binding	p.R326W(1)									GCACTTACCCGGGAGAGCACG	0.418000													5	37					8.12818e-05	9.32131e-05	1	1	0
METTL14	57721	broad.mit.edu	37	4	119631241	119631241	+	Missense_Mutation	SNP	G	G	C			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr4:119631241G>C	ENST00000388822.4	+	11	1322	c.1155G>C	c.(1153-1155)ttG>ttC	p.L385F	METTL14_ENST00000506780.1_Missense_Mutation_p.L347F			Q9HCE5	MTL14_HUMAN	methyltransferase like 14	385						nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						ATTCCTACTTGACTGGTTGTA	0.468000													12	125					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8340450	8340450	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr9:8340450C>A	ENST00000381196.4	-	39	5689	c.5146G>T	c.(5146-5148)Gct>Tct	p.A1716S	PTPRD_ENST00000397606.3_Missense_Mutation_p.A1309S|PTPRD_ENST00000486161.1_Missense_Mutation_p.A1309S|PTPRD_ENST00000355233.5_Missense_Mutation_p.A1310S|PTPRD_ENST00000358503.5_Missense_Mutation_p.A1694S|PTPRD_ENST00000360074.4_Missense_Mutation_p.A1703S|PTPRD_ENST00000397611.3_Missense_Mutation_p.A1306S|PTPRD_ENST00000356435.5_Missense_Mutation_p.A1716S|PTPRD_ENST00000397617.3_Missense_Mutation_p.A1309S|PTPRD_ENST00000540109.1_Missense_Mutation_p.A1716S|PTPRD_ENST00000537002.1_Missense_Mutation_p.A1306S	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1716	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CCCTGGGTAGCGATGTAGGCT	0.443000										TSP Lung(15;0.13)			5	34					0.00116845	0.00130992	1	1	0
HDAC3	8841	broad.mit.edu	37	5	141016186	141016186	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr5:141016186G>A	ENST00000305264.3	-	2	146	c.67C>T	c.(67-69)Cct>Tct	p.P23S		NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	histone deacetylase 3	23	Histone deacetylase.				anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex	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)|transcription corepressor activity|transcription factor binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	GGCTTCATAGGGTGTCCAGCT	0.592000													26	40					0	0	1	0	0
FAM160A2	84067	broad.mit.edu	37	11	6244451	6244451	+	Silent	SNP	G	G	C			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr11:6244451G>C	ENST00000265978.4	-	4	1153	c.795C>G	c.(793-795)ctC>ctG	p.L265L	FAM160A2_ENST00000449352.2_Silent_p.L265L|FAM160A2_ENST00000524416.1_Silent_p.L265L	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	265					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						ACAGGGCACTGAGCCCTGTGG	0.478000													25	148					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26739456	26739456	+	Nonsense_Mutation	SNP	G	G	T	rs139098225	byFrequency	TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr2:26739456G>T	ENST00000272371.2	-	5	465	c.339C>A	c.(337-339)tgC>tgA	p.C113*	OTOF_ENST00000403946.3_Nonsense_Mutation_p.C113*	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	113					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGACCTCCACGCACAGGCTGG	0.597000													4	63					0.150653	0.153103	1	1	0
TMEM184C	55751	broad.mit.edu	37	4	148545212	148545212	+	Splice_Site	SNP	G	G	C			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr4:148545212G>C	ENST00000296582.3	+	3	828		c.e3-1		TMEM184C_ENST00000508208.1_Splice_Site	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C							integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						TTTTCCAATAGGATTCTTTGG	0.269000													7	40					0	0	1	0	0
ZNF266	10781	broad.mit.edu	37	19	9525300	9525300	+	Missense_Mutation	SNP	T	T	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr19:9525300T>A	ENST00000592904.1	-	5	2377	c.301A>T	c.(301-303)Aat>Tat	p.N101Y	ZNF266_ENST00000592292.1_Missense_Mutation_p.N101Y|ZNF266_ENST00000588933.1_Missense_Mutation_p.N101Y|ZNF266_ENST00000588221.1_Missense_Mutation_p.N101Y|ZNF266_ENST00000361451.2_Missense_Mutation_p.N101Y|ZNF266_ENST00000590306.1_Missense_Mutation_p.N101Y|ZNF266_ENST00000361151.1_Missense_Mutation_p.N101Y			Q14584	ZN266_HUMAN	zinc finger protein 266	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						TTCTCACTATTTTGAGTTCTC	0.433000													22	121					0	0	1	0	0
PTGIS	5740	broad.mit.edu	37	20	48156158	48156158	+	Missense_Mutation	SNP	G	G	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr20:48156158G>A	ENST00000244043.4	-	5	651	c.622C>T	c.(622-624)Cgc>Tgc	p.R208C	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	208					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	p.R208C(1)		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)	TCGAGCTGGCGAAAGGTGTGG	0.642000													6	11					0	0	1	0	0
GATA6	2627	broad.mit.edu	37	18	19761486	19761486	+	Missense_Mutation	SNP	G	G	A	rs151176879	byFrequency	TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr18:19761486G>A	ENST00000269216.3	+	4	1652	c.1375G>A	c.(1375-1377)Gcc>Acc	p.A459T	GATA6_ENST00000581694.1_Missense_Mutation_p.A459T	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	459					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			GCGCAGAAACGCCGAGGGTGA	0.473000													4	73					0	0	1	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643245	1643245	+	Missense_Mutation	SNP	C	C	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr11:1643245C>A	ENST00000399682.1	-	1	123	c.79G>T	c.(79-81)Ggc>Tgc	p.G27C		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	27						keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		cccccacagccagagccacag	0.687000													27	97					4.22769e-11	5.56276e-11	1	1	0
NBEA	26960	broad.mit.edu	37	13	35747693	35747693	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr13:35747693G>T	ENST00000400445.3	+	27	5050	c.4516G>T	c.(4516-4518)Gaa>Taa	p.E1506*	NBEA_ENST00000540320.1_Nonsense_Mutation_p.E1506*|NBEA_ENST00000379939.2_Nonsense_Mutation_p.E1503*|NBEA_ENST00000310336.4_Nonsense_Mutation_p.E1506*	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1506						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TAAACCTCAGGAAGTTCCTCA	0.363000													8	45					0.00448238	0.00489343	1	1	0
ABLIM1	3983	broad.mit.edu	37	10	116331142	116331142	+	Missense_Mutation	SNP	C	C	T			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr10:116331142C>T	ENST00000533213.2	-	4	708	c.407G>A	c.(406-408)cGa>cAa	p.R136Q	ABLIM1_ENST00000369252.4_Missense_Mutation_p.R136Q|ABLIM1_ENST00000277895.5_Missense_Mutation_p.R196Q			O14639	ABLM1_HUMAN	actin binding LIM protein 1	196	LIM zinc-binding 1.				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		GAATGTGACTCGGTCTCCGGG	0.532000													4	50					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													4	35					0	0	1	0	0
C1R	715	broad.mit.edu	37	12	7187961	7187961	+	Missense_Mutation	SNP	T	T	C			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr12:7187961T>C	ENST00000542285.1	-	11	1986	c.1837A>G	c.(1837-1839)Act>Gct	p.T613A				P00736	C1R_HUMAN	complement component 1, r subcomponent	665	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					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)	CAGCGATCAGTGTTCGGGTCC	0.567000													8	62					0	0	1	0	0
RP11-739N20.2	0	broad.mit.edu	37	1	204363980	204363980	+	RNA	DEL	A	A	-			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr1:204363980delA	ENST00000443515.1	+	0	146																											tttgtttttcaaaaaaaaaaa	0.308													3	6	---	---	---	---					
FGD5P1	100132526	broad.mit.edu	37	3	13977625	13977625	+	RNA	DEL	C	C	-			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr3:13977625delC	ENST00000502451.1	+	0	2558					NR_036481.1																						AAGGGCCTGGCCCCACTCTGG	0.582													2	4	---	---	---	---					
IGSF11	152404	broad.mit.edu	37	3	118623579	118623580	+	Frame_Shift_Ins	INS	-	-	A			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr3:118623579_118623580insA	ENST00000354673.2	-	8	1146_1147	c.766_767insT	c.(766-768)catfs	p.H256fs	IGSF11_ENST00000441144.2_Frame_Shift_Ins_p.H232fs|IGSF11_ENST00000393775.2_Frame_Shift_Ins_p.H257fs|IGSF11_ENST00000491903.1_Intron|IGSF11_ENST00000425327.2_Frame_Shift_Ins_p.H256fs|IGSF11_ENST00000489689.1_Frame_Shift_Ins_p.H233fs	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	257					cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	p.C256fs*17(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TAGTGCAATGCAAAAAATGATA	0.347													18	233	---	---	---	---					
HMX3	340784	broad.mit.edu	37	10	124895717	124895717	+	Frame_Shift_Del	DEL	C	C	-			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr10:124895717delC	ENST00000357878.5	+	1	240	c.151delC	c.(151-153)ccfs	p.P52fs		NM_001105574.1	NP_001099044.1	A6NHT5	HMX3_HUMAN	H6 family homeobox 3	52	Pro-rich.				cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity			lung(4)	4		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)		GCCTCAGCCGCCCCCACGGAC	0.776													2	4	---	---	---	---					
ROBO3	64221	broad.mit.edu	37	11	124750448	124750453	+	In_Frame_Del	DEL	CGGAGT	CGGAGT	-	rs55725290		TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr11:124750448_124750453delCGGAGT	ENST00000397801.1	+	27	4285_4290	c.4093_4098delCGGAGT	c.(4093-4098)del	p.RS1367del	ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000543966.1_In_Frame_Del_p.RS130del|ROBO3_ENST00000538940.1_In_Frame_Del_p.RS1345del	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1367					axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TGgccggagccggagtcggagtcaga	0.660													5	3	---	---	---	---					
UCHL3	7347	broad.mit.edu	37	13	76123902	76123916	+	RNA	DEL	GGCGGCGGCGGCGAA	GGCGGCGGCGGCGAA	-	rs8192737		TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr13:76123902_76123916delGGCGGCGGCGGCGAA	ENST00000563635.1	+	0	0_8																											GggcggaagcggcggcggcggcgaaggcggcggcT	0.716											OREG0022446	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---					
IGHV3-43	28426	broad.mit.edu	37	14	106926652	106926653	+	RNA	DEL	TC	TC	-			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr14:106926652_106926653delTC	ENST00000434710.1	-	0	71_72																											CATGGTGCGTTCTCTGTGTTCA	0.495													7	213	---	---	---	---					
C3	718	broad.mit.edu	37	19	6686782	6686784	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr19:6686782_6686784delAAG	ENST00000245907.6	-	28	3711_3713	c.3619_3621delCTT	c.(3619-3621)del	p.L1207del		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1207					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GAAATTTGTTAAGAAGAGGCCCC	0.542													27	237	---	---	---	---					
ANKRD20A18P	391269	broad.mit.edu	37	21	15436915	15436915	+	RNA	DEL	G	G	-			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr21:15436915delG	ENST00000428809.1	+	0	177																											CCCCTGGGACGGGGGCCTTGG	0.687													6	7	---	---	---	---					
PSMG1	8624	broad.mit.edu	37	21	40555233	40555235	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-MP-A4SY-01A-21D-A24P-08	TCGA-MP-A4SY-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	931f1c77-b188-4290-bc49-2b4cc27e4b78	267363e1-7e14-42dc-915c-d4f6e8d72261	g.chr21:40555233_40555235delCCT	ENST00000331573.3	-	1	542_544	c.77_79delAGG	c.(76-81)ggg>g	p.EG26del	PSMG1_ENST00000380900.2_In_Frame_Del_p.EG26del	NM_001261824.1|NM_003720.3	NP_001248753.1|NP_003711.1	O95456	PSMG1_HUMAN	proteasome (prosome, macropain) assembly chaperone 1	26					proteasome assembly	endoplasmic reticulum	protein binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	8		Prostate(19;8.44e-08)				tccctccgcccctcctcctcctc	0.695													2	4	---	---	---	---					
