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
MELK	9833	broad.mit.edu	37	9	36607602	36607602	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr9:36607602T>C	ENST00000543751.1	+	7	647	c.502T>C	c.(502-504)Tat>Cat	p.Y168H	MELK_ENST00000541717.1_Missense_Mutation_p.Y200H|MELK_ENST00000538311.1_Missense_Mutation_p.Y6H|MELK_ENST00000545008.1_Missense_Mutation_p.Y129H|MELK_ENST00000536860.1_Missense_Mutation_p.Y152H|MELK_ENST00000536987.1_Missense_Mutation_p.Y69H|MELK_ENST00000536329.1_Missense_Mutation_p.Y129H|MELK_ENST00000298048.2_Missense_Mutation_p.Y200H|MELK_ENST00000487398.1_3'UTR	NM_001256689.1	NP_001243618.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	200	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			CATACTGTTATATGTTCTTAT	0.328000													4	362					0	0	0.150653	0	0
UTP14A	10813	broad.mit.edu	37	X	129058772	129058772	+	Splice_Site	SNP	T	T	G			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chrX:129058772T>G	ENST00000394422.3	+	12	1378	c.1348_splice	c.e12-1	p.D450_splice	UTP14A_ENST00000371051.5_Splice_Site_p.D396_splice|UTP14A_ENST00000371042.3_Splice_Site_p.D282_splice|UTP14A_ENST00000425117.2_Splice_Site_p.D398_splice|RP4-537K23.4_ENST00000432062.1_RNA	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	450					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						TTCCCCCAGATTCTGGCAGCC	0.448000													6	682					0	0	0.248553	0	0
CARF	79800	broad.mit.edu	37	2	203826186	203826186	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr2:203826186G>C	ENST00000444724.1	+	8	1149	c.869G>C	c.(868-870)aGc>aCc	p.S290T	CARF_ENST00000545253.1_Intron|CARF_ENST00000545262.1_Intron|WDR12_ENST00000477723.1_Intron|CARF_ENST00000471271.1_Intron|CARF_ENST00000414439.1_Intron|CARF_ENST00000456821.2_Intron|CARF_ENST00000320443.8_Intron|CARF_ENST00000438828.2_Intron|CARF_ENST00000434998.1_Missense_Mutation_p.S188T|CARF_ENST00000428585.1_Intron|CARF_ENST00000402905.2_Intron					calcium responsive transcription factor																		AGGTTCAGCAGCAGCCATAGT	0.323000													5	11					0	0	0.520397	0	0
HSF4	3299	broad.mit.edu	37	16	67203204	67203204	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr16:67203204G>A	ENST00000264009.8	+	14	2242	c.1277G>A	c.(1276-1278)cGg>cAg	p.R426Q	HSF4_ENST00000584272.1_Missense_Mutation_p.R396Q|HSF4_ENST00000521374.1_Missense_Mutation_p.R426Q|HSF4_ENST00000421453.1_Missense_Mutation_p.R396Q	NM_001040667.2	NP_001035757.1	Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	426					response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GTTCCAGAGCGGGGTGAGCCT	0.592000													4	43					0	0	0.184627	0	0
LRRC49	54839	broad.mit.edu	37	15	71276512	71276512	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr15:71276512A>C	ENST00000260382.5	+	11	1345	c.1085A>C	c.(1084-1086)aAt>aCt	p.N362T	LRRC49_ENST00000544974.2_Missense_Mutation_p.N352T|LRRC49_ENST00000443425.2_Missense_Mutation_p.N318T|LRRC49_ENST00000560369.1_Missense_Mutation_p.N367T|LRRC49_ENST00000560158.2_Missense_Mutation_p.N50T|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560691.1_Missense_Mutation_p.N68T	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	362						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						ATTGCTACAAATGAAGATAGA	0.413000													19	111					0	0	0.592651	0	0
FAM212B	55924	broad.mit.edu	37	1	112269769	112269769	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr1:112269769C>T	ENST00000357260.5	-	2	896	c.715G>A	c.(715-717)Gag>Aag	p.E239K	FAM212B_ENST00000534365.1_Intron|FAM212B_ENST00000444059.2_Missense_Mutation_p.E224K	NM_019099.4	NP_061972.1	Q9NTI7	CA183_HUMAN	family with sequence similarity 212, member B	239										cervix(1)|endometrium(1)	2						GTTCGGGACTCAGGGACCATG	0.607000													5	76					0	0	0.184627	0	0
TTI2	80185	broad.mit.edu	37	8	33371089	33371089	+	Translation_Start_Site	SNP	G	G	A			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr8:33371089G>A	ENST00000431156.2	-	0	30				SNORD13_ENST00000459299.1_RNA	NM_001102401.2	NP_001095871.1	Q6NXR4	CH041_HUMAN	TELO2 interacting protein 2								binding										cacattacccgtctgacctga	0.438000													46	173					0	0	0.870114	0	0
IDH2	3418	broad.mit.edu	37	15	90631628	90631628	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr15:90631628G>A	ENST00000330062.3	-	5	754	c.641C>T	c.(640-642)gCa>gTa	p.A214V	IDH2_ENST00000539790.1_Missense_Mutation_p.A84V|IDH2_ENST00000559482.1_Missense_Mutation_p.A105V|IDH2_ENST00000540499.2_Missense_Mutation_p.A162V	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	214					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			CACGCCGCCTGCGGGGAAGTT	0.592000			M		GBM								15	153					0	0	0.557998	0	0
DCAF11	80344	broad.mit.edu	37	14	24590630	24590630	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr14:24590630G>A	ENST00000446197.3	+	13	2030	c.1303G>A	c.(1303-1305)Gga>Aga	p.G435R	DCAF11_ENST00000559115.1_Missense_Mutation_p.G435R|DCAF11_ENST00000396936.1_Missense_Mutation_p.G335R|RP11-468E2.6_ENST00000558325.1_Missense_Mutation_p.R24Q|DCAF11_ENST00000396941.4_Missense_Mutation_p.G409R	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	435						CUL4 RING ubiquitin ligase complex	protein binding	p.G435R(1)									CCGGGGCCACGGAGTGCTGCA	0.577000													21	104					0	0	0.639603	0	0
NAGLU	4669	broad.mit.edu	37	17	40690727	40690727	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr17:40690727C>T	ENST00000225927.2	+	4	819	c.718C>T	c.(718-720)Cca>Tca	p.P240S	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	240						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CGGCATGACCCCAGTGCTGCC	0.597000													19	73					0	0	0.592651	0	0
GPRC5D	55507	broad.mit.edu	37	12	13103070	13103070	+	Silent	SNP	C	C	T			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr12:13103070C>T	ENST00000228887.1	-	1	248	c.249G>A	c.(247-249)gaG>gaA	p.E83E	RP11-392P7.6_ENST00000536029.1_RNA|RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000543515.2_RNA|RP11-392P7.6_ENST00000394742.3_RNA|RP11-392P7.6_ENST00000540198.1_RNA|GPRC5D_ENST00000396333.3_Silent_p.E83E|RP11-392P7.6_ENST00000545914.1_RNA	NM_018654.1	NP_061124.1	Q9NZD1	GPC5D_HUMAN	G protein-coupled receptor, family C, group 5, member D	83						integral to membrane|plasma membrane	G-protein coupled receptor activity			kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		GTTGATTGAGCTCGATGATGA	0.527000													3	76					0	0	0.115264	0	0
CREB5	9586	broad.mit.edu	37	7	28848894	28848894	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr7:28848894G>A	ENST00000357727.2	+	9	1507	c.1117G>A	c.(1117-1119)Gat>Aat	p.D373N	CREB5_ENST00000396300.2_Missense_Mutation_p.D366N|CREB5_ENST00000409603.1_Missense_Mutation_p.D340N|CREB5_ENST00000396298.2_Missense_Mutation_p.D234N|CREB5_ENST00000396299.2_Missense_Mutation_p.D340N	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	373					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						GGTAGACGAGGATCCGGACGA	0.607000													23	57					0	0	0.624587	0	0
OCEL1	79629	broad.mit.edu	37	19	17337970	17337970	+	Silent	SNP	G	G	A			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr19:17337970G>A	ENST00000215061.4	+	3	458	c.414G>A	c.(412-414)ggG>ggA	p.G138G	OCEL1_ENST00000597836.1_Silent_p.G82G|OCEL1_ENST00000601529.1_Silent_p.G138G|OCEL1_ENST00000601576.1_3'UTR	NM_024578.1	NP_078854.1	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	138										central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						TCCCTAAGGGGCATAAGCCTA	0.587000													4	116					0	0	0.184627	0	0
IL17RE	132014	broad.mit.edu	37	3	9956185	9956185	+	Silent	SNP	A	A	G			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr3:9956185A>G	ENST00000454190.2	+	14	1408	c.1323A>G	c.(1321-1323)ggA>ggG	p.G441G	IL17RE_ENST00000383814.3_Intron|IL17RE_ENST00000295980.3_Intron|IL17RE_ENST00000421412.1_Intron	NM_001193380.1	NP_001180309.1	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E	0						cytoplasm|extracellular region|integral to membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		GCTCCCCGGGAGGAGAAGATG	0.617000													36	162					0	0	0.804634	0	0
CELF4	56853	broad.mit.edu	37	18	34846536	34846536	+	Silent	SNP	G	G	T			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr18:34846536G>T	ENST00000420428.2	-	9	1520	c.1125C>A	c.(1123-1125)ccC>ccA	p.P375P	CELF4_ENST00000361795.5_Silent_p.P373P|CELF4_ENST00000588597.1_Silent_p.P364P|CELF4_ENST00000334919.5_Silent_p.P365P|CELF4_ENST00000412753.1_Silent_p.P374P|CELF4_ENST00000601019.1_Silent_p.P373P|CELF4_ENST00000591282.1_Silent_p.P375P|CELF4_ENST00000603232.1_Silent_p.P374P|CELF4_ENST00000591287.1_Silent_p.P374P	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	375					embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						CCTGCTGCAGGGGGTCCGCGG	0.642000													3	12					0.115264	0.128824	0.115264	1	0
EML5	161436	broad.mit.edu	37	14	89153576	89153576	+	Silent	SNP	C	C	T			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr14:89153576C>T	ENST00000554922.1	-	19	3086	c.2838G>A	c.(2836-2838)ttG>ttA	p.L946L	EML5_ENST00000380664.5_Silent_p.L946L|EML5_ENST00000352093.5_Silent_p.L908L	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	946						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ATCCTGGGGCCAATGCAGCTC	0.393000													8	32					0	0	0.307466	0	0
PDGFD	80310	broad.mit.edu	37	11	104034545	104034545	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr11:104034545G>T	ENST00000302251.5	-	1	562	c.111C>A	c.(109-111)aaC>aaA	p.N37K	PDGFD_ENST00000393158.2_Missense_Mutation_p.N37K	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	37					positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		CTCGCCTGAGGTTGGCGTTGC	0.403000											OREG0021315	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	104					1.7881e-09	2.21569e-09	0.729181	1	0
SLC13A4	26266	broad.mit.edu	37	7	135390994	135390994	+	Silent	SNP	G	G	A			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr7:135390994G>A	ENST00000354042.4	-	4	1109	c.420C>T	c.(418-420)aaC>aaT	p.N140N		NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	140						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						TGGTGGAGGTGTTGGACAGCC	0.627000													10	40					0	0	0.435327	0	0
CLSTN1	22883	broad.mit.edu	37	1	9804590	9804590	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr1:9804590T>C	ENST00000377298.4	-	8	1889	c.1097A>G	c.(1096-1098)aAc>aGc	p.N366S	CLSTN1_ENST00000361311.4_Missense_Mutation_p.N356S|CLSTN1_ENST00000377288.3_Missense_Mutation_p.N366S	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	366					homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		CTGGGTGCCGTTGAACTCAAA	0.632000													11	43					0	0	0.435327	0	0
GRM8	2918	broad.mit.edu	37	7	126544081	126544081	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr7:126544081T>A	ENST00000339582.2	-	5	1771	c.963A>T	c.(961-963)caA>caT	p.Q321H	GRM8_ENST00000405249.1_Missense_Mutation_p.Q321H|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.Q321H|GRM8_ENST00000358373.3_Missense_Mutation_p.Q321H			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	321					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CAATCTCCTCTTGCTGATAGA	0.423000										HNSCC(24;0.065)			46	166					0	0	0.870114	0	0
CPSF3	51692	broad.mit.edu	37	2	9572771	9572771	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr2:9572771A>T	ENST00000460593.1	+	5	1500	c.362A>T	c.(361-363)cAc>cTc	p.H121L	CPSF3_ENST00000238112.3_Missense_Mutation_p.H158L			Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	158					histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		CATGCAGGTCACGTCCTAGGA	0.463000													3	68					0	0	0.115264	0	0
AKAP6	9472	broad.mit.edu	37	14	33015692	33015692	+	Silent	SNP	A	A	T			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr14:33015692A>T	ENST00000280979.4	+	4	2003	c.1833A>T	c.(1831-1833)ccA>ccT	p.P611P	AKAP6_ENST00000557354.1_Silent_p.P611P|AKAP6_ENST00000557272.1_Silent_p.P611P	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	611					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CCTCCTCTCCAAGTCACGTCA	0.478000													19	89					0	0	0.539581	0	0
BMP2	650	broad.mit.edu	37	20	6759595	6759595	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr20:6759595C>G	ENST00000378827.4	+	3	2269	c.1050C>G	c.(1048-1050)aaC>aaG	p.N350K		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	350					BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	CGTTGGTCAACTCTGTTAACT	0.468000													3	126					0	0	0.115264	0	0
EFNB2	1948	broad.mit.edu	37	13	107164902	107164902	+	Silent	SNP	C	C	T			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr13:107164902C>T	ENST00000245323.4	-	2	530	c.381G>A	c.(379-381)caG>caA	p.Q127Q		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	127					cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					CTTTGTTCTTCTGAAATTCTA	0.303000													35	104					0	0	0.779181	0	0
SNHG14	104472715	broad.mit.edu	37	15	25232121	25232121	+	RNA	SNP	C	C	G			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr15:25232121C>G	ENST00000551631.2	+	0	887				SNHG14_ENST00000551361.1_RNA|SNORD108_ENST00000459332.1_RNA	NR_001293.1																						ACTTTCCATTCCTGCAAAGGG	0.438000													17	111					0	0	0.539581	0	0
AKAP12	9590	broad.mit.edu	37	6	151672019	151672019	+	Silent	SNP	A	A	G			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr6:151672019A>G	ENST00000402676.2	+	4	2733	c.2493A>G	c.(2491-2493)gcA>gcG	p.A831A	AKAP12_ENST00000253332.1_Silent_p.A831A|AKAP12_ENST00000359755.5_Silent_p.A726A|AKAP12_ENST00000354675.6_Silent_p.A733A	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	831					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TTGAAGACGCAGGGCCAACAG	0.512000													3	137					0	0	0.115264	0	0
CYP4B1	1580	broad.mit.edu	37	1	47278213	47278213	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr1:47278213G>A	ENST00000271153.4	+	4	449	c.413G>A	c.(412-414)cGc>cAc	p.R138H	CYP4B1_ENST00000452782.2_5'UTR|CYP4B1_ENST00000371919.4_Missense_Mutation_p.R123H|CYP4B1_ENST00000371923.4_Missense_Mutation_p.R138H			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	138					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					TTGCAGCACCGCAAGCTGCTC	0.602000													3	79					0	0	0.115264	0	0
CCDC129	223075	broad.mit.edu	37	7	31617737	31617737	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr7:31617737T>C	ENST00000409210.1	+	6	767	c.583T>C	c.(583-585)Ttt>Ctt	p.F195L	CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000407970.3_Missense_Mutation_p.F287L|CCDC129_ENST00000451887.2_Missense_Mutation_p.F313L			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	287										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TTTTGTTCCCTTTACAAAACC	0.448000													10	28					0	0	0.335167	0	0
CTAGE5	4253	broad.mit.edu	37	14	39819379	39819379	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr14:39819379T>A	ENST00000553728.1	+	28	4144	c.3931T>A	c.(3931-3933)Tct>Act	p.S1311T	CTAGE5_ENST00000396158.2_Missense_Mutation_p.S781T|CTAGE5_ENST00000553383.1_3'UTR|CTAGE5_ENST00000556148.1_Missense_Mutation_p.S701T|CTAGE5_ENST00000280083.3_Missense_Mutation_p.S776T|CTAGE5_ENST00000553352.1_Missense_Mutation_p.S747T|CTAGE5_ENST00000557038.1_Missense_Mutation_p.S696T|CTAGE5_ENST00000396165.4_Missense_Mutation_p.S747T|CTAGE5_ENST00000348007.3_Missense_Mutation_p.S733T|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.S747T|CTAGE5_ENST00000341502.5_Intron|CTAGE5_ENST00000341749.3_Missense_Mutation_p.S764T																							ACCCCCACATTCTGAAGGTAG	0.463000													40	170					0	0	0.827153	0	0
OPTC	26254	broad.mit.edu	37	1	203468977	203468977	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr1:203468977A>G	ENST00000367222.2	+	5	846	c.730A>G	c.(730-732)Agg>Ggg	p.R244G		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	244						proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			TGCAGCCTTCAGGGTGAGTCA	0.592000													3	97					0	0	0.115264	0	0
KCNH7	90134	broad.mit.edu	37	2	163256910	163256910	+	Silent	SNP	A	A	G			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr2:163256910A>G	ENST00000332142.5	-	10	2295	c.2196T>C	c.(2194-2196)tgT>tgC	p.C732C		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	732					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TGAGATGTAGACAAATGTCTG	0.438000													51	218					0	0	0.870114	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48897082	48897082	+	Silent	SNP	T	T	C			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr2:48897082T>C	ENST00000394754.1	+	9	3426	c.3312T>C	c.(3310-3312)agT>agC	p.S1104S	STON1-GTF2A1L_ENST00000309827.2_Silent_p.S1104S|GTF2A1L_ENST00000403751.3_Silent_p.S400S|GTF2A1L_ENST00000430487.2_Silent_p.S366S|STON1-GTF2A1L_ENST00000405008.1_Silent_p.S1104S|STON1-GTF2A1L_ENST00000402114.2_Silent_p.S1104S|STON1-GTF2A1L_ENST00000394751.3_Silent_p.S1057S	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		1057					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCACAAACAGTAGTGATAATG	0.363000													30	134					0	0	0.750413	0	0
CCDC74A	90557	broad.mit.edu	37	2	132288265	132288265	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr2:132288265G>T	ENST00000467992.2	+	1	1029	c.715G>T	c.(715-717)Gag>Tag	p.E239*	CCDC74A_ENST00000295171.6_Nonsense_Mutation_p.E137*|CCDC74A_ENST00000409856.3_Intron			Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	137										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CAGGCTGAAGGAGGGCTCCTC	0.662000													6	84					1.12685e-05	1.36661e-05	0.307466	1	0
KCNN3	3782	broad.mit.edu	37	1	154842012	154842012	+	Silent	SNP	G	G	A			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr1:154842012G>A	ENST00000271915.3	-	1	744	c.429C>T	c.(427-429)tcC>tcT	p.S143S		NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	148						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			TTGTAGCTGTGGAACTTGGAG	0.647000													5	28					0	0	0.307466	0	0
ADAR	103	broad.mit.edu	37	1	154561068	154561068	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr1:154561068C>A	ENST00000368474.4	-	10	3043	c.2844G>T	c.(2842-2844)aaG>aaT	p.K948N	ADAR_ENST00000368471.3_Missense_Mutation_p.K653N|ADAR_ENST00000292205.5_Missense_Mutation_p.K991N	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	948	A to I editase.				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TTATTTGGAGCTTTTCTCCTC	0.433000													5	194					0.217242	0.233638	0.217242	1	0
PTPRH	5794	broad.mit.edu	37	19	55716831	55716831	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr19:55716831C>T	ENST00000376350.3	-	4	504	c.482G>A	c.(481-483)gGc>gAc	p.G161D	PTPRH_ENST00000263434.5_Intron|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	161	Fibronectin type-III 2.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CCCTGCTCTGCCACCATCTCC	0.577000													33	117					0	0	0.804634	0	0
SPIC	121599	broad.mit.edu	37	12	101880233	101880233	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr12:101880233C>A	ENST00000551346.1	+	6	590	c.431C>A	c.(430-432)tCa>tAa	p.S144*	SPIC_ENST00000299272.5_Nonsense_Mutation_p.S144*			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	144						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						CAGTTTGTATCAAAAAACAAA	0.423000													4	153					0.00909568	0.0103691	0.150653	1	0
SLC4A7	9497	broad.mit.edu	37	3	27446453	27446453	+	Splice_Site	SNP	C	C	T			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr3:27446453C>T	ENST00000295736.5	-	14	1986	c.1914_splice	c.e14-1	p.S639_splice	SLC4A7_ENST00000454389.1_Splice_Site_p.S648_splice|SLC4A7_ENST00000435667.2_Splice_Site_p.S524_splice|SLC4A7_ENST00000425128.2_Splice_Site_p.V573_splice|SLC4A7_ENST00000445684.1_Splice_Site_p.S635_splice|SLC4A7_ENST00000440156.1_Splice_Site_p.S635_splice|SLC4A7_ENST00000428386.1_Splice_Site_p.S515_splice|SLC4A7_ENST00000437179.1_Splice_Site_p.S520_splice|SLC4A7_ENST00000455077.1_Splice_Site_p.S520_splice|SLC4A7_ENST00000446700.1_Splice_Site_p.S631_splice|SLC4A7_ENST00000388777.4_Splice_Site_p.S189_splice	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	639						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						CTCTATTGCACTCTGTTTAAG	0.348000													39	125					0	0	0.812448	0	0
TEKT4	150483	broad.mit.edu	37	2	95539321	95539321	+	Silent	SNP	A	A	G			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr2:95539321A>G	ENST00000295201.4	+	2	692	c.555A>G	c.(553-555)gcA>gcG	p.A185A	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	185					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						TCATGCAAGCAGTGAGCCAGA	0.597000													7	33					0	0	0.278610	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2901602	2901602	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr17:2901602T>C	ENST00000254695.8	+	14	1222	c.1132T>C	c.(1132-1134)Tcc>Ccc	p.S378P	RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.S359P|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.S363P|RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.S378P	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	378	Rap-GAP.				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CATGATAGCCTCCAATTTCTT	0.493000													3	186					0	0	0.115264	0	0
MBOAT1	154141	broad.mit.edu	37	6	20212418	20212418	+	Silent	SNP	G	G	T			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr6:20212418G>T	ENST00000324607.7	-	1	212	c.48C>A	c.(46-48)ggC>ggA	p.G16G	MBOAT1_ENST00000536798.1_Silent_p.G16G|MBOAT1_ENST00000541730.1_5'UTR|RP11-239H6.2_ENST00000449143.2_RNA	NM_001080480.1	NP_001073949.1	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	16					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			GGTAGGTGGAGCCCGTGGTGC	0.697000													4	27					0.00909568	0.0103691	0.150653	1	0
SRGAP3	9901	broad.mit.edu	37	3	9106174	9106174	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr3:9106174T>C	ENST00000383836.3	-	5	1005	c.578A>G	c.(577-579)aAt>aGt	p.N193S	SRGAP3_ENST00000360413.3_Missense_Mutation_p.N193S|SRGAP3_ENST00000433332.3_5'UTR	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	193					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TCCTGACTTATTGAACTGCTT	0.547000			T	RAF1	pilocytic astrocytoma								3	176					0	0	0.150653	0	0
KIAA1468	57614	broad.mit.edu	37	18	59895745	59895745	+	Silent	SNP	A	A	G			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr18:59895745A>G	ENST00000256858.6	+	8	1610	c.1362A>G	c.(1360-1362)ccA>ccG	p.P454P	KIAA1468_ENST00000398130.2_Silent_p.P454P|KIAA1468_ENST00000592479.1_3'UTR			Q9P260	K1468_HUMAN	KIAA1468	454							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				AGAATTCCCCAAATTCATTCC	0.373000													23	93					0	0	0.667858	0	0
PROX1-AS1	100505832	broad.mit.edu	37	1	214078310	214078311	+	RNA	INS	-	-	AGAG	rs144325996	by1000genomes	TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr1:214078310_214078311insAGAG	ENST00000433082.2	-	0	195				PROX1-AS1_ENST00000601744.1_RNA|PROX1-AS1_ENST00000601907.1_RNA|PROX1-AS1_ENST00000593620.1_RNA|PROX1-AS1_ENST00000413560.1_RNA|PROX1-AS1_ENST00000598105.1_RNA|PROX1-AS1_ENST00000601335.1_RNA|PROX1-AS1_ENST00000600591.1_RNA																							gaaaggtaggaagagagggaaa	0.421													2	4	---	---	---	---					
CYP21A1P	1590	broad.mit.edu	37	6	31975832	31975833	+	RNA	INS	-	-	C			TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr6:31975832_31975833insC	ENST00000342991.6	+	0	1653					NR_040090.1		Q5ST44	Q5ST44_HUMAN									electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen										GGGGCCGGGGGCCTGCCATGAA	0.658													5	1	---	---	---	---					
RP4-601P9.2	0	broad.mit.edu	37	12	115179367	115179368	+	RNA	DEL	AC	AC	-	rs10584343		TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr12:115179367_115179368delAC	ENST00000551875.1	+	0	541																											tactaaaaatacacacacacac	0.535													3	2	---	---	---	---					
RP11-252A24.2	0	broad.mit.edu	37	16	74372178	74372178	+	RNA	DEL	C	C	-	rs113003755		TCGA-BP-4795-01A-02D-1421-08	TCGA-BP-4795-11A-01D-1421-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3e4e1aa-108b-46d9-9724-6e9b4adf7129	feb7a7a2-122d-4343-baef-4ac89f681cba	g.chr16:74372178delC	ENST00000429810.2	-	0	2018																											gtctggaactcctgacttcag	0.502													3	6	---	---	---	---					
