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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CRISPLD2	83716	broad.mit.edu	37	16	84940197	84940197	+	Silent	SNP	G	A	A			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr16:84940197G>A	uc010voh.1	+	14	1670	c.1443G>A	c.(1441-1443)ctG>ctA	p.L481L	CRISPLD2_uc010vog.1_Intron	NM_031476	NP_113664	Q9H0B8	CRLD2_HUMAN	Homo sapiens cysteine-rich secretory protein LCCL domain containing 2 (CRISPLD2), mRNA.	481	LCCL 2.					extracellular region|transport vesicle				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						TTTTCAGCCTGGGGACTCCTC	0.597000														195			56		0	0	0.139131	0	0
PFKFB4	5210	broad.mit.edu	37	3	48577177	48577177	+	Nonsense_Mutation	SNP	C	A	A			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr3:48577177C>A	uc003ctv.3	-	4	423	c.406G>T	c.(406-408)Gaa>Taa	p.E136*	PFKFB4_uc003ctx.3_Nonsense_Mutation_p.E93*|PFKFB4_uc010hkb.3_Nonsense_Mutation_p.E136*|PFKFB4_uc003ctw.3_5'UTR|PFKFB4_uc010hkc.3_Nonsense_Mutation_p.E136*|PFKFB4_uc011bbm.2_Nonsense_Mutation_p.E125*|PFKFB4_uc011bbn.1_Non-coding_Transcript	NM_004567	NP_004558	Q16877	F264_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 (PFKFB4), mRNA.	136	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity	p.R135R(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		GCTCTCCGTTCTCGGGTGGTG	0.567000														60			42		5.34276e-22	6.65324e-22	0.139131	1	0
abParts	0	broad.mit.edu	37	14	106967163	106967163	+	RNA	SNP	G	A	A			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr14:106967163G>A	uc021ser.1	-	263		c.10337C>T								Parts of antibodies, mostly variable regions.																		ACTTCTGTGCGTAGCTTGTGC	0.562000														50			93		0	0	0.139131	0	0
AHNAK2	113146	broad.mit.edu	37	14	105412623	105412623	+	Silent	SNP	A	G	G			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr14:105412623A>G	uc010axc.1	-	6	9285	c.9165T>C	c.(9163-9165)gcT>gcC	p.A3055A	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.A2955A	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	3055						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTTTGAGGCCAGCTCCCTCGG	0.607000														277			5		0	0	0.014758	0	0
DBC1	1620	broad.mit.edu	37	9	121930244	121930244	+	Silent	SNP	C	T	T			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr9:121930244C>T	uc004bkc.2	-	7	1860	c.1404G>A	c.(1402-1404)tcG>tcA	p.S468S		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	468					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						CGCTCCGCTCCGAGTCCACGT	0.592000														71			21		0	0	0.069288	0	0
M6PR	4074	broad.mit.edu	37	12	9096395	9096395	+	Splice_Site	SNP	A	G	G			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr12:9096395A>G	uc001qvf.3	-	4	728	c.453_splice	c.e4+1	p.A151_splice	M6PR_uc021quk.1_Splice_Site_p.A151_splice	NM_002355	NP_002346	P20645	MPRD_HUMAN	Homo sapiens mannose-6-phosphate receptor (cation dependent) (M6PR), transcript variant 1, mRNA.	151					endosome to lysosome transport|receptor-mediated endocytosis	cell surface|endosome|integral to plasma membrane|lysosomal membrane	mannose binding|mannose transmembrane transporter activity|transmembrane receptor activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(1)	11		Hepatocellular(102;0.137)		BRCA - Breast invasive adenocarcinoma(232;0.0146)		AGGGTGCCTCACCGCTAGGGT	0.527000														69			15		0	0	0.132662	0	0
ZNF681	148213	broad.mit.edu	37	19	23926850	23926850	+	Missense_Mutation	SNP	G	A	A			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr19:23926850G>A	uc002nrk.4	-	3	1644	c.1502C>T	c.(1501-1503)aCt>aTt	p.T501I	ZNF681_uc002nrl.4_Missense_Mutation_p.T432I|ZNF681_uc002nrj.4_Missense_Mutation_p.T432I	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	Homo sapiens zinc finger protein 681 (ZNF681), mRNA.	501					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TTTCTCTCCAGTATGAATTCT	0.363000														37			12		0	0	0.093190	0	0
FAM124B	79843	broad.mit.edu	37	2	225266233	225266233	+	Missense_Mutation	SNP	C	T	T			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr2:225266233C>T	uc002vnx.3	-	0	479	c.253G>A	c.(253-255)Gtc>Atc	p.V85I	FAM124B_uc002vnw.3_Missense_Mutation_p.V85I	NM_001122779	NP_001116251	Q9H5Z6	F124B_HUMAN	Homo sapiens family with sequence similarity 124B (FAM124B), transcript variant 1, mRNA.	85							protein binding	p.V85I(3)		endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		GAGTCCAGGACGCGAAATAGC	0.552000														105			14		0	0	0.038395	0	0
ADCK4	79934	broad.mit.edu	37	19	41198098	41198098	+	Missense_Mutation	SNP	C	T	T			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr19:41198098C>T	uc002oor.2	-	14	1779	c.1477G>A	c.(1477-1479)Gca>Aca	p.A493T	NUMBL_uc010xvq.2_5'Flank|NUMBL_uc010xvr.2_5'Flank|NUMBL_uc002oon.3_5'Flank|NUMBL_uc002ooo.3_5'Flank|ADCK4_uc002oop.1_Missense_Mutation_p.A170T|ADCK4_uc002ooq.2_Missense_Mutation_p.A452T	NM_024876	NP_079152	Q96D53	ADCK4_HUMAN	Homo sapiens aarF domain containing kinase 4 (ADCK4), transcript variant 1, mRNA.	493						integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			AAAGCCCCTGCCAGCTTGCGG	0.687000														13			3		0	0	0.115264	0	0
MARC1	64757	broad.mit.edu	37	1	220971317	220971317	+	Silent	SNP	G	A	A			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr1:220971317G>A	uc001hmt.3	+	3	962	c.714G>A	c.(712-714)agG>agA	p.R238R	MARC1_uc001hms.3_Silent_p.R238R	NM_022746	NP_073583	Q5VT66	MOSC1_HUMAN	Homo sapiens mitochondrial amidoxime reducing component 1 (MARC1), nuclear gene encoding mitochondrial protein, mRNA.	238	MOSC.						molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										CCAACTTCAGGCCCAATATTG	0.443000														316			101		0	0	0.139131	0	0
TTC6	319089	broad.mit.edu	37	14	38311414	38311414	+	Missense_Mutation	SNP	G	A	A	rs151288389		TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr14:38311414G>A	uc001wuj.3	+	13	1871	c.1769G>A	c.(1768-1770)cGt>cAt	p.R590H	TTC6_uc001wug.3_Intron|TTC6_uc001wuh.3_Missense_Mutation_p.R493H|TTC6_uc001wui.3_Non-coding_Transcript					SubName: Full=TTC6 protein;											central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		GCAAAAGTTCGTGGTAAAATA	0.353000														42			76		0	0	0.139131	0	0
SCN3A	6328	broad.mit.edu	37	2	166010994	166010994	+	Missense_Mutation	SNP	C	T	T			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr2:166010994C>T	uc002ucx.3	-	10	1840	c.1348G>A	c.(1348-1350)Gaa>Aaa	p.E450K	SCN3A_uc002ucy.3_Missense_Mutation_p.E450K|SCN3A_uc002ucz.3_Missense_Mutation_p.E450K|SCN3A_uc002uda.1_Missense_Mutation_p.E319K|SCN3A_uc002udb.1_Missense_Mutation_p.E319K	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	450						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.E450K(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TTAAGCTGTTCGAGCATCTGC	0.403000														73			5		0	0	0.029380	0	0
NUP210L	91181	broad.mit.edu	37	1	153991451	153991451	+	Missense_Mutation	SNP	C	A	A			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr1:153991451C>A	uc001fdw.3	-	32	4683	c.4611G>T	c.(4609-4611)atG>atT	p.M1537I	NUP210L_uc009woq.3_Missense_Mutation_p.M446I|NUP210L_uc010peh.2_Missense_Mutation_p.M1537I	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	1537						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CATGAAAAATCATTGCAGTCC	0.438000														168			6		0.00116845	0.00132961	0.021553	1	0
PTPN14	5784	broad.mit.edu	37	1	214557259	214557259	+	Missense_Mutation	SNP	T	C	C			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr1:214557259T>C	uc001hkk.2	-	12	2592	c.1939A>G	c.(1939-1941)Aac>Gac	p.N647D	PTPN14_uc021piy.1_Missense_Mutation_p.N411D|PTPN14_uc010pty.2_Missense_Mutation_p.N548D	NM_005401	NP_005392	Q15678	PTN14_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA.	647					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		ACCATGCTGTTCATCACCTCC	0.662000														85			43		0	0	0.139131	0	0
HRC	3270	broad.mit.edu	37	19	49657602	49657602	+	Missense_Mutation	SNP	C	T	T	rs146437807		TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr19:49657602C>T	uc002pmv.3	-	0	1080	c.893G>A	c.(892-894)cGa>cAa	p.R298Q		NM_002152	NP_002143	P23327	SRCH_HUMAN	Homo sapiens histidine rich calcium binding protein (HRC), mRNA.	298	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TTCATGGCTTCGGTGCCTGTG	0.527000														50			60		0	0	0.139131	0	0
PPP4R2	151987	broad.mit.edu	37	3	73110176	73110176	+	Missense_Mutation	SNP	T	A	A			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr3:73110176T>A	uc003dph.1	+	4	454	c.384T>A	c.(382-384)aaT>aaA	p.N128K	PPP4R2_uc003dpi.1_Missense_Mutation_p.N71K|EBLN2_uc003dpj.3_5'Flank	NM_174907	NP_777567	Q9NY27	PP4R2_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 2 (PPP4R2), mRNA.	128					RNA splicing|mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination	centrosome|nucleus|protein phosphatase 4 complex	protein binding, bridging|protein phosphatase type 4 regulator activity			breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2)	12		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)		TATTGCAGAATGTGATGGTTG	0.259000														21			5		0	0	0.038147	0	0
TKT	7086	broad.mit.edu	37	3	53264627	53264627	+	Missense_Mutation	SNP	C	T	T			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr3:53264627C>T	uc003dgo.3	-	7	1125	c.953G>A	c.(952-954)cGc>cAc	p.R318H	TKT_uc003dgp.2_5'UTR|TKT_uc011beo.1_Missense_Mutation_p.R271H|TKT_uc003dgq.3_Missense_Mutation_p.R318H|TKT_uc011beq.2_Missense_Mutation_p.R326H|TKT_uc011ber.2_Missense_Mutation_p.R120H	NM_001135055	NP_001128527	P29401	TKT_HUMAN	Homo sapiens transketolase (TKT), transcript variant 2, mRNA.	318					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	GTAGGCCTTGCGGGTGGCTAT	0.587000														66			4		0	0	0.021553	0	0
MEIS2	4212	broad.mit.edu	37	15	37184626	37184626	+	Missense_Mutation	SNP	C	A	A			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr15:37184626C>A	uc001zjr.3	-	11	2256	c.1182G>T	c.(1180-1182)caG>caT	p.Q394H	MEIS2_uc001zjl.3_3'UTR|MEIS2_uc010ucj.2_Missense_Mutation_p.Q374H|MEIS2_uc001zjm.3_3'UTR|MEIS2_uc001zjn.3_3'UTR|MEIS2_uc001zjo.3_3'UTR|MEIS2_uc001zjp.3_3'UTR|MEIS2_uc001zjs.3_Missense_Mutation_p.Q387H|MEIS2_uc001zju.3_3'UTR|MEIS2_uc001zjt.3_Missense_Mutation_p.Q387H|MEIS2_uc001zjj.3_Missense_Mutation_p.Q90H|MEIS2_uc001zjk.3_Missense_Mutation_p.Q83H	NM_170675	NP_733775	O14770	MEIS2_HUMAN	Homo sapiens Meis homeobox 2 (MEIS2), transcript variant c, mRNA.	394					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		TAGGACCACCCTGAGAAACGT	0.458000														129			45		4.00472e-15	4.89466e-15	0.139131	1	0
NOS3	4846	broad.mit.edu	37	7	150698913	150698913	+	Missense_Mutation	SNP	G	A	A			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr7:150698913G>A	uc003wif.3	+	12	1803	c.1507G>A	c.(1507-1509)Gtg>Atg	p.V503M	NOS3_uc011kuy.2_Missense_Mutation_p.V297M|NOS3_uc011kva.2_Missense_Mutation_p.V503M|NOS3_uc011kuz.2_Missense_Mutation_p.V503M|NOS3_uc011kvb.2_Missense_Mutation_p.V503M	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	503	Calmodulin-binding (Potential).				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	Golgi membrane|caveola|cytoskeleton|cytosol	FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CCGCAGCGCCGTGAAGATCTC	0.642000														88			43		0	0	0.139131	0	0
FAM129A	116496	broad.mit.edu	37	1	184767228	184767228	+	Missense_Mutation	SNP	C	A	A			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr1:184767228C>A	uc001gra.3	-	12	1845	c.1651G>T	c.(1651-1653)Gat>Tat	p.D551Y	FAM129A_uc001grb.1_Missense_Mutation_p.D314Y	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	551					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						AGAGTTTCATCAAGCAGGATC	0.453000														69			7		0.00307968	0.00344506	0.038147	1	0
FAM55D	54827	broad.mit.edu	37	11	114465481	114465481	+	Missense_Mutation	SNP	T	G	G			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr11:114465481T>G	uc001ppc.3	-	1	182	c.1A>C	c.(1-3)Atg>Ctg	p.M1L	FAM55D_uc001ppd.3_5'UTR	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	Homo sapiens family with sequence similarity 55, member D (FAM55D), transcript variant 1, mRNA.	1						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)		CTTATTTTCATGATTAGGATC	0.318000														32			7		0	0	0.038147	0	0
GTPBP4	23560	broad.mit.edu	37	10	1043230	1043230	+	Silent	SNP	G	A	A			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr10:1043230G>A	uc001ift.3	+	4	614	c.543G>A	c.(541-543)aaG>aaA	p.K181K	GTPBP4_uc010qac.1_5'UTR|GTPBP4_uc010qad.2_Silent_p.K65K|GTPBP4_uc010qae.2_Silent_p.K134K	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	Homo sapiens GTP binding protein 4 (GTPBP4), mRNA.	181					negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		ATGTTGGGAAGTCCAGCTTCA	0.443000														223			182		0	0	0.139131	0	0
CA10	56934	broad.mit.edu	37	17	49710848	49710848	+	Missense_Mutation	SNP	A	C	C			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr17:49710848A>C	uc002itv.4	-	8	1707	c.971T>G	c.(970-972)cTt>cGt	p.L324R	CA10_uc002itw.4_Missense_Mutation_p.L318R|CA10_uc002itx.4_Missense_Mutation_p.L318R|CA10_uc002ity.4_Missense_Mutation_p.L318R|CA10_uc002itz.2_Missense_Mutation_p.L318R	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	Homo sapiens carbonic anhydrase X (CA10), transcript variant 2, mRNA.	318					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			TCTATACTGAAGCTTCTGGGC	0.502000														104			19		0	0	0.062417	0	0
RETSAT	54884	broad.mit.edu	37	2	85571180	85571180	+	Missense_Mutation	SNP	G	A	A	rs149307146	by1000genomes	TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr2:85571180G>A	uc002spd.3	-	8	1666	c.1475C>T	c.(1474-1476)tCc>tTc	p.S492F	RETSAT_uc010fge.3_Intron|RETSAT_uc010ysm.2_Missense_Mutation_p.S431F	NM_017750	NP_060220	Q6NUM9	RETST_HUMAN	Homo sapiens retinol saturase (all-trans-retinol 13,14-reductase) (RETSAT), mRNA.	492					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity	p.S492F(2)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	TTCCACAAAGGAGTTTTTGAA	0.537000														306			6		0	0	0.021553	0	0
abParts	0	broad.mit.edu	37	14	106364007	106364007	+	Splice_Site	SNP	T	C	C			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr14:106364007T>C	uc021ser.1	-	3662		c.56137_splice	c.e3662+1		KIAA0125_uc001ysq.3_Intron|KIAA0125_uc001ysr.3_Intron					Parts of antibodies, mostly variable regions.																		CAGTGCTGTATAGGGGGCTCC	0.547000														6			2		0	0	0.115264	0	0
VWCE	220001	broad.mit.edu	37	11	61026692	61026692	+	Nonsense_Mutation	SNP	C	A	A			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr11:61026692C>A	uc001nra.3	-	19	2602	c.2323G>T	c.(2323-2325)Gag>Tag	p.E775*	VWCE_uc001nrb.3_Non-coding_Transcript	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	Homo sapiens von Willebrand factor C and EGF domains (VWCE), mRNA.	775						extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						ACAGGGGCCTCAGTGTCTCCA	0.567000														72			20		4.96729e-08	5.85431e-08	0.049695	1	0
TTN	7273	broad.mit.edu	37	2	179415765	179415765	+	Missense_Mutation	SNP	G	A	A			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr2:179415765G>A	uc021vsy.1	-	284	84014	c.83789C>T	c.(83788-83790)gCa>gTa	p.A27930V	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.A21625V|TTN_uc021vta.1_Missense_Mutation_p.A21558V|TTN_uc021vtb.1_Missense_Mutation_p.A21433V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	28857	Fibronectin type-III 103.						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)			AGCATTTCTTGCAATTATTCT	0.418000														30			3		0	0	0.115264	0	0
TTC30B	150737	broad.mit.edu	37	2	178416990	178416990	+	Missense_Mutation	SNP	C	T	T			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr2:178416990C>T	uc002uln.3	-	0	535	c.502G>A	c.(502-504)Gga>Aga	p.G168R	TTC30B_uc010zfc.1_5'UTR	NM_152517	NP_689730	Q8N4P2	TT30B_HUMAN	Homo sapiens tetratricopeptide repeat domain 30B (TTC30B), mRNA.	168				Missing (in Ref. 1; BAB70953).	cell projection organization	cilium	binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			TCATACTGTCCCTCCTTGTAG	0.567000														639			92		0	0	0.139131	0	0
SLC35F3	148641	broad.mit.edu	37	1	234458910	234458910	+	Missense_Mutation	SNP	A	T	T			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr1:234458910A>T	uc001hvy.1	+	7	1539	c.1394A>T	c.(1393-1395)gAg>gTg	p.E465V	SLC35F3_uc001hwa.1_Missense_Mutation_p.E396V	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	396					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			AAGAAGGAGGAGCCTGCAGAG	0.587000											OREG0014330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		175			28		0	0	0.045705	0	0
MED12L	116931	broad.mit.edu	37	3	151072983	151072983	+	Missense_Mutation	SNP	C	T	T			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr3:151072983C>T	uc003eyp.3	+	15	2497	c.2368C>T	c.(2368-2370)Ctc>Ttc	p.L790F	MED12L_uc011bnz.2_Missense_Mutation_p.L650F|P2RY12_uc011boa.2_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_5'Flank	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	790					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTTCACTAAACTCCAGCTCCT	0.358000														38			15		0	0	0.146539	0	0
abParts	0	broad.mit.edu	37	14	106926482	106926482	+	RNA	SNP	T	C	C			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr14:106926482T>C	uc021ser.1	-	325		c.11386A>G								Parts of antibodies, mostly variable regions.																		CCAGCTGCACTTCACACTGGA	0.527000														104			4		0	0	0.014758	0	0
MUC5B	727897	broad.mit.edu	37	11	1258389	1258389	+	Missense_Mutation	SNP	T	G	G			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr11:1258389T>G	uc001lta.3	+	24	3351	c.3292T>G	c.(3292-3294)Tcc>Gcc	p.S1098A	MUC5B_uc009yct.2_Missense_Mutation_p.S1098A	NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	1098	VWFD 3.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.R1097G(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGCCTGCCGCTCCCAGGTGGG	0.682000														8			3		0	0	0.115264	0	0
RAB11FIP5	26056	broad.mit.edu	37	2	73315269	73315269	+	Missense_Mutation	SNP	C	T	T			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr2:73315269C>T	uc002siu.4	-	2	1718	c.1477G>A	c.(1477-1479)Gcc>Acc	p.A493T	RAB11FIP5_uc002sit.4_Missense_Mutation_p.A415T	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN	Homo sapiens RAB11 family interacting protein 5 (class I) (RAB11FIP5), mRNA.	493					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						TGTGGGGAGGCCCCCAGGATG	0.607000														361			49		0	0	0.139131	0	0
HDAC8	55869	broad.mit.edu	37	X	71681922	71681922	+	Missense_Mutation	SNP	G	C	C			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chrX:71681922G>C	uc004eau.3	-	8	1279	c.937C>G	c.(937-939)Cga>Gga	p.R313G	HDAC8_uc011mqe.2_Missense_Mutation_p.R170G|HDAC8_uc011mqg.2_Missense_Mutation_p.R222G|HDAC8_uc011mqf.2_Non-coding_Transcript	NM_018486	NP_060956	Q9BY41	HDAC8_HUMAN	Homo sapiens histone deacetylase 8 (HDAC8), transcript variant 1, mRNA.	313	Histone deacetylase.				chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nuclear chromosome	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|metal ion binding|transcription factor binding			breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	GTCCAGCATCGAGCCGTGTTG	0.473000														17			10		0	0	0.069234	0	0
RPTN	126638	broad.mit.edu	37	1	152127802	152127802	+	Missense_Mutation	SNP	T	C	C			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr1:152127802T>C	uc001ezs.1	-	2	1838	c.1773A>G	c.(1771-1773)atA>atG	p.I591M		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	591	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TTTGCCCTTGTATTTCCCCAG	0.453000														508			208		0	0	0.139131	0	0
SASS6	163786	broad.mit.edu	37	1	100572938	100572938	+	Missense_Mutation	SNP	C	G	G			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr1:100572938C>G	uc001dsu.3	-	10	1459	c.1318G>C	c.(1318-1320)Gag>Cag	p.E440Q	SASS6_uc009wdz.3_Missense_Mutation_p.E273Q	NM_194292	NP_919268	Q6UVJ0	SAS6_HUMAN	Homo sapiens spindle assembly 6 homolog (C. elegans) (SASS6), mRNA.	440					centriole replication	centriole		p.E440V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		ACCTCTTGCTCTTTAATTCGA	0.294000														70			11		0	0	0.093190	0	0
BC071802	0	broad.mit.edu	37	2	62374018	62374018	+	Splice_Site	SNP	C	T	T			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr2:62374018C>T	uc002sbr.3	-	1		c.1_splice	c.e1-1							Homo sapiens cDNA clone IMAGE:4698949, partial cds.																		AGGGAGCTCACTCAGTGGGTT	0.512000														91			14		0	0	0.038395	0	0
NGFR	4804	broad.mit.edu	37	17	47588006	47588006	+	Silent	SNP	G	T	T			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr17:47588006G>T	uc002ioz.4	+	3	926	c.801G>T	c.(799-801)gtG>gtT	p.V267V		NM_002507	NP_002498	P08138	TNR16_HUMAN	Homo sapiens nerve growth factor receptor (NGFR), mRNA.	267					anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					TGGGCCTTGTGGCCTACATAG	0.577000														223			44		8.04919e-23	1.02163e-22	0.139131	1	0
MS4A12	54860	broad.mit.edu	37	11	60268545	60268545	+	Missense_Mutation	SNP	C	T	T			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr11:60268545C>T	uc001npr.3	+	2	361	c.304C>T	c.(304-306)Cac>Tac	p.H102Y	MS4A12_uc021qkb.1_Intron	NM_017716	NP_060186	Q9NXJ0	M4A12_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 12 (MS4A12), transcript variant 1, mRNA.	102						integral to membrane	receptor activity			breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						TGGATTGATGCACATTGGTTT	0.373000														221			43		0	0	0.098360	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17190402	17190402	+	Missense_Mutation	SNP	G	A	A			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr11:17190402G>A	uc001mmq.4	-	0	952	c.887C>T	c.(886-888)tCa>tTa	p.S296L	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.2_Intron|PIK3C2A_uc001mmr.3_Non-coding_Transcript|PIK3C2A_uc010rcx.1_Missense_Mutation_p.S296L|PIK3C2A_uc009ygv.1_Missense_Mutation_p.S296L	NM_002645	NP_002636	O00443	P3C2A_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, alpha polypeptide (PIK3C2A), mRNA.	296					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	Golgi apparatus|clathrin-coated vesicle|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TAGCAAACTTGAAACATTTTT	0.393000														190			54		0	0	0.139131	0	0
HIST1H2BL	8340	broad.mit.edu	37	6	27775403	27775403	+	Silent	SNP	C	T	T	rs141648774		TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr6:27775403C>T	uc003njl.3	-	0	307	c.282G>A	c.(280-282)gaG>gaA	p.E94E	HIST1H3H_uc003njm.3_5'Flank	NM_003519	NP_003510	Q99880	H2B1L_HUMAN	Homo sapiens histone cluster 1, H2bl (HIST1H2BL), mRNA.	94					nucleosome assembly	nucleosome|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						CGGTCTGGATCTCCCTGGAGG	0.617000														37			102		0	0	0.139131	0	0
AKNA	80709	broad.mit.edu	37	9	117139726	117139726	+	Missense_Mutation	SNP	T	C	C			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr9:117139726T>C	uc004biq.3	-	1	496	c.361A>G	c.(361-363)Act>Gct	p.T121A	AKNA_uc004bio.3_5'Flank|AKNA_uc004bip.3_Missense_Mutation_p.T40A|AKNA_uc004bir.3_Missense_Mutation_p.T121A|AKNA_uc004bis.3_Missense_Mutation_p.T121A|AKNA_uc010mve.2_Missense_Mutation_p.T2A|AKNA_uc004biu.1_Intron|AKNA_uc004biv.1_Missense_Mutation_p.T121A|AKNA_uc004biw.1_Missense_Mutation_p.T121A	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	Homo sapiens AT-hook transcription factor (AKNA), mRNA.	121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						TCCTCTTCAGTCATGTCCAGC	0.602000														66			68		0	0	0.139131	0	0
OXR1	55074	broad.mit.edu	37	8	107752622	107752622	+	Missense_Mutation	SNP	T	A	A			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr8:107752622T>A	uc011lht.2	+	12	2317	c.2218T>A	c.(2218-2220)Tat>Aat	p.Y740N	OXR1_uc022azp.1_Missense_Mutation_p.Y739N|OXR1_uc003ymf.3_Missense_Mutation_p.Y712N|OXR1_uc011lhu.2_Missense_Mutation_p.Y705N|OXR1_uc010mcg.3_Non-coding_Transcript|OXR1_uc010mch.3_Missense_Mutation_p.Y368N|OXR1_uc003ymk.3_Missense_Mutation_p.Y109N|OXR1_uc003yml.3_Missense_Mutation_p.Y82N	NM_001198532	NP_001185461	Q8N573	OXR1_HUMAN	Homo sapiens oxidation resistance 1 (OXR1), transcript variant 3, mRNA.	740	TLD.				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			GACTCTTGTTTATGGTACTGG	0.383000														51			8		0	0	0.058154	0	0
CATSPERD	257062	broad.mit.edu	37	19	5763295	5763295	+	Silent	SNP	C	A	A			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr19:5763295C>A	uc002mda.3	+	15	1558	c.1497C>A	c.(1495-1497)atC>atA	p.I499I	CATSPERD_uc010duj.1_Silent_p.I157I	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	Homo sapiens transmembrane protein 146 (TMEM146), mRNA.	499						integral to membrane											GTGTGGATATCAAGCCACTGG	0.443000														78			7		1.33987e-11	1.60784e-11	0.069234	1	0
MLIP	90523	broad.mit.edu	37	6	53989447	53989447	+	Silent	SNP	T	C	C			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr6:53989447T>C	uc011dxa.2	+	2	462	c.429T>C	c.(427-429)atT>atC	p.I143I	MLIP_uc003pcf.2_Silent_p.I132I|MLIP_uc003pcg.4_Silent_p.I132I|MLIP_uc003pch.4_Silent_p.I70I|MLIP_uc011dwz.1_Silent_p.I91I	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA.	132						PML body|nuclear envelope	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						ATGTCCTTATTGTGGACTCCG	0.502000														33			115		0	0	0.139131	0	0
LOC645752	645752	broad.mit.edu	37	15	78211548	78211548	+	Silent	SNP	T	C	C			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr15:78211548T>C	uc010bky.2	-	10	983	c.219A>G	c.(217-219)caA>caG	p.Q73Q						Homo sapiens golgi autoantigen, golgin subfamily a, 6 pseudogene (LOC645752), non-coding RNA.																		CCACCTGGGATTGGAGCTTTC	0.562000														252			6		0	0	0.029380	0	0
TMCO2	127391	broad.mit.edu	37	1	40713708	40713709	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr1:40713708_40713709delTC	uc001cfe.2	+	0	136_137	c.43_44delTC	c.(43-45)tctfs	p.S15fs		NM_001008740	NP_001008740	Q7Z6W1	TMCO2_HUMAN	Homo sapiens transmembrane and coiled-coil domains 2 (TMCO2), mRNA.	15						integral to membrane				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			CCTCTTAGAGTCTCTCTCTCTC	0.406													---	609	---	---	10	---					
NES	10763	broad.mit.edu	37	1	156642804	156642804	+	Frame_Shift_Del	DEL	G	-	-			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr1:156642804delG	uc001fpq.3	-	3	1309	c.1176delC	c.(1174-1176)cccfs	p.P392fs	NES_uc021pbh.1_5'Flank	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	392	Tail.				G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTGAGGTGTGGGGGGGATGG	0.597													---	840	---	---	7	---					
TPR	7175	broad.mit.edu	37	1	186327733	186327735	+	In_Frame_Del	DEL	GAT	-	-			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr1:186327733_186327735delGAT	uc001grv.3	-	12	1734_1736	c.1437_1439delATC	c.(1435-1440)tcatct>tct	p.479_480SS>S	MIR548F1_uc021pgf.1_Intron|TPR_uc010pop.2_In_Frame_Del_p.555_556SS>S	NM_003292	NP_003283	P12270	TPR_HUMAN	Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA.	479					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic cell cycle spindle assembly checkpoint|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	p.S480*(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CTCAAGTACAGATGATTGCTTGT	0.320			T	NTRK1	papillary thyroid								---	56	---	---	7	---					
HAVCR1	26762	broad.mit.edu	37	5	156482352	156482362	+	Frame_Shift_Del	DEL	AATAGCTTATA	-	-	rs111358310		TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr5:156482352_156482362delAATAGCTTATA	uc010jij.1	-	2	414_424	c.229_239delTATAAGCTATT	c.(229-240)tataagctattgfs	p.Y77fs	HAVCR1_uc011ddl.1_5'Flank|HAVCR1_uc003lwi.2_Frame_Shift_Del_p.Y77fs|HAVCR1_uc021ygj.1_Frame_Shift_Del_p.Y77fs|HAVCR1_uc021ygk.1_5'Flank|HAVCR1_uc011ddm.2_Frame_Shift_Del_p.Y77fs	NM_001099414	NP_036338	Q96D42	HAVR1_HUMAN	Homo sapiens hepatitis A virus cellular receptor 1 (HAVCR1), transcript variant 2, mRNA.	77	Ig-like V-type.				interspecies interaction between organisms	integral to membrane	receptor activity	p.R76H(1)		endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AAGGTCCCCCAATAGCTTATAGCGTGTGTCC	0.479													---	224	---	---	52	---					
NSD1	64324	broad.mit.edu	37	5	176710903	176710903	+	Frame_Shift_Del	DEL	T	-	-			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr5:176710903delT	uc003mfr.4	+	19	6263	c.6125delT	c.(6124-6126)cttfs	p.L2042fs	NSD1_uc003mft.4_Frame_Shift_Del_p.L1773fs|NSD1_uc011dfx.2_Frame_Shift_Del_p.L1690fs	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	2042	SET.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)|Epithelial(233;0.198)	Kidney(146;0.235)		CGTGTAGGCCTTTTTGCACTA	0.438			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			---	1031	---	---	7	---					
RGS9	8787	broad.mit.edu	37	17	63156389	63156390	+	Frame_Shift_Ins	INS	-	A	A			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr17:63156389_63156390insA	uc002jfe.3	+	3	447_448	c.244_245insA	c.(244-246)tacfs	p.Y82fs	RGS9_uc021ubw.1_Frame_Shift_Ins_p.Y82fs|RGS9_uc010dem.3_Frame_Shift_Ins_p.Y82fs|RGS9_uc002jfd.3_Frame_Shift_Ins_p.Y82fs	NM_003835	NP_003826	O75916	RGS9_HUMAN	Homo sapiens regulator of G-protein signaling 9 (RGS9), transcript variant 1, mRNA.	82	DEP.				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CAGGTATGGCTACATTTACCCC	0.500													---	616	---	---	14	---					
TMC8	147138	broad.mit.edu	37	17	76134728	76134757	+	In_Frame_Del	DEL	GCCCTTGGGCTCCCGCCCATTGGCCAGCGT	-	-	rs150356106		TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr17:76134728_76134757delGCCCTTGGGCTCCCGCCCATTGGCCAGCGT	uc002jup.2	+	13	2120_2149	c.1738_1767delGCCCTTGGGCTCCCGCCCATTGGCCAGCGT	c.(1738-1767)gcccttgggctcccgcccattggccagcgtdel	p.ALGLPPIGQR580del	TMC8_uc002juq.2_In_Frame_Del_p.ALGLPPIGQR357del|TMC8_uc002jur.1_In_Frame_Del_p.PLGSRPLASV30del	NM_152468	NP_689681	Q8IU68	TMC8_HUMAN	Homo sapiens transmembrane channel-like 8 (TMC8), mRNA.	580						endoplasmic reticulum membrane|integral to membrane		p.R589C(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			GGAGCTGGTGGCCCTTGGGCTCCCGCCCATTGGCCAGCGTGCCCTCCACT	0.670													---	516	---	---	10	---					
EPG5	57724	broad.mit.edu	37	18	43514887	43514888	+	Frame_Shift_Ins	INS	-	A	A			TCGA-AL-3466-01A-01D-1252-08	TCGA-AL-3466-10A-01D-1252-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75de0b05-e8e7-4591-99ef-c50d0772ca3b	656d840f-c095-487f-9c3a-712f21c7cdc8	g.chr18:43514887_43514888insA	uc002lbm.3	-	10	2244_2245	c.2144_2145insT	c.(2143-2145)ctgfs	p.L715fs	EPG5_uc002lbo.1_Frame_Shift_Ins_p.L715fs	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA.	715					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TTTGCACAGACAGAGTCCCAAA	0.495													---	117	---	---	34	---					
