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
RAD17	5884	broad.mit.edu	37	5	68682287	68682287	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr5:68682287A>G	ENST00000509734.1	+	10	1600	c.922A>G	c.(922-924)Aac>Gac	p.N308D	RAD17_ENST00000380774.3_Missense_Mutation_p.N308D|RAD17_ENST00000361732.2_Missense_Mutation_p.N297D|RAD17_ENST00000358030.2_Missense_Mutation_p.N132D|RAD17_ENST00000305138.4_Missense_Mutation_p.N297D|RAD17_ENST00000282891.6_Missense_Mutation_p.N211D|RAD17_ENST00000521422.1_Missense_Mutation_p.N132D|RAD17_ENST00000345306.6_Missense_Mutation_p.N297D|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000354312.3_Missense_Mutation_p.N297D|RAD17_ENST00000354868.5_Missense_Mutation_p.N297D			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	308					cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		TATAGAAGCTAACAAGGTAAG	0.284000								Other conserved DNA damage response genes					8	16					0	0	0.038147	0	0
NDST1	3340	broad.mit.edu	37	5	149901143	149901143	+	Silent	SNP	C	C	T			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr5:149901143C>T	ENST00000261797.6	+	2	829	c.327C>T	c.(325-327)ttC>ttT	p.F109F	NDST1_ENST00000523767.1_Silent_p.F109F	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	109	Heparan sulfate N-deacetylase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGCCGCTTCAAATACCGCA	0.612000													25	80					0	0	0.108266	0	0
GRIK5	2901	broad.mit.edu	37	19	42563637	42563637	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr19:42563637G>C	ENST00000262895.3	-	5	550	c.551C>G	c.(550-552)tCc>tGc	p.S184C	GRIK5_ENST00000301218.4_Missense_Mutation_p.S184C|GRIK5_ENST00000593562.1_Missense_Mutation_p.S184C	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	184						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	CGTCTCCTTGGAGATGAGGAA	0.607000													13	68					0	0	0.105934	0	0
GNAZ	2781	broad.mit.edu	37	22	23438508	23438508	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr22:23438508G>A	ENST00000248996.4	+	2	1292	c.626G>A	c.(625-627)cGc>cAc	p.R209H	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	209						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		AGGTCAGAGCGCAAAAAGTGG	0.562000													4	160					0	0	0.009096	0	0
CCNJ	54619	broad.mit.edu	37	10	97817643	97817643	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr10:97817643A>G	ENST00000265992.5	+	6	1131	c.764A>G	c.(763-765)cAg>cGg	p.Q255R	ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000427846.1_RNA|CCNJ_ENST00000465148.2_Missense_Mutation_p.Q266R|ENTPD1-AS1_ENST00000451364.1_RNA|CCNJ_ENST00000534974.1_Missense_Mutation_p.Q255R|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA|CCNJ_ENST00000403870.3_Missense_Mutation_p.Q254R|ENTPD1-AS1_ENST00000454638.1_RNA	NM_001134375.1|NM_001134376.1|NM_019084.4	NP_001127847.1|NP_001127848.1|NP_061957.2	Q5T5M9	CCNJ_HUMAN	cyclin J	255						nucleus				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	11				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)		GCAGGACCTCAGTCAGCGCAA	0.468000													31	17					0	0	0.144211	0	0
CDS2	8760	broad.mit.edu	37	20	5169814	5169814	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr20:5169814A>C	ENST00000460006.1	+	11	1390	c.1083A>C	c.(1081-1083)aaA>aaC	p.K361N	CDS2_ENST00000379070.3_3'UTR|CDS2_ENST00000379062.4_Missense_Mutation_p.K241N|CDS2_ENST00000535100.1_Missense_Mutation_p.K131N	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	361					phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						GTGGATTCAAACGAGCCTTTA	0.517000													23	41					0	0	0.091800	0	0
CASP8	841	broad.mit.edu	37	2	202131240	202131240	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr2:202131240G>A	ENST00000358485.4	+	2	404	c.208G>A	c.(208-210)Ggg>Agg	p.G70R	CASP8_ENST00000323492.7_Missense_Mutation_p.G11R|CASP8_ENST00000432109.2_Missense_Mutation_p.G11R|CASP8_ENST00000392258.3_Missense_Mutation_p.G11R|CASP8_ENST00000392266.3_Missense_Mutation_p.G11R|CASP8_ENST00000264274.9_Missense_Mutation_p.G11R|CASP8_ENST00000264275.5_Missense_Mutation_p.G11R|CASP8_ENST00000392259.2_Missense_Mutation_p.G11R	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	11	DED 1.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	p.G11R(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TTATGATATTGGGGAACAACT	0.403000										HNSCC(4;0.00038)			33	17					0	0	0.064281	0	0
SEC11A	23478	broad.mit.edu	37	15	85230875	85230875	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr15:85230875C>G	ENST00000268220.7	-	3	932	c.292G>C	c.(292-294)Gtc>Ctc	p.V98L	SEC11A_ENST00000558134.1_Missense_Mutation_p.V98L|SEC11A_ENST00000560266.1_Missense_Mutation_p.V98L|SEC11A_ENST00000455959.3_Missense_Mutation_p.V72L	NM_014300.2	NP_055115.1	P67812	SC11A_HUMAN	SEC11 homolog A (S. cerevisiae)	98					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	protein binding|serine-type peptidase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(143;0.199)			ATCTTCAAGACTCGGTGAACT	0.343000													21	75					0	0	0.076483	0	0
TBC1D24	57465	broad.mit.edu	37	16	2546268	2546268	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr16:2546268G>A	ENST00000567020.1	+	2	259	c.119G>A	c.(118-120)cGc>cAc	p.R40H	TBC1D24_ENST00000434757.2_Missense_Mutation_p.R40H|TBC1D24_ENST00000293970.5_Missense_Mutation_p.R40H|RP11-20I23.1_ENST00000564543.1_Missense_Mutation_p.R40H	NM_020705.2	NP_065756.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	40					neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						CAGCTGGCGCGCCAGGGCTAC	0.642000													13	31					0	0	0.105934	0	0
TINF2	26277	broad.mit.edu	37	14	24709835	24709835	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr14:24709835G>A	ENST00000399423.4	-	6	1181	c.851C>T	c.(850-852)aCa>aTa	p.T284I	TINF2_ENST00000267415.7_Missense_Mutation_p.T284I|TINF2_ENST00000538777.1_Missense_Mutation_p.T70I|TINF2_ENST00000559019.1_3'UTR|TINF2_ENST00000558566.1_3'UTR|TINF2_ENST00000540705.1_Missense_Mutation_p.T249I	NM_012461.2	NP_036593.2	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	284					negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		CAGCATGACTGTGGGGCGCTC	0.552000									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome				17	28					0	0	0.146539	0	0
LATS1	9113	broad.mit.edu	37	6	150005729	150005729	+	Splice_Site	SNP	C	C	T			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr6:150005729C>T	ENST00000543571.1	-	4	1044		c.e4-1		LATS1_ENST00000542747.1_Splice_Site|LATS1_ENST00000392273.3_Splice_Site|LATS1_ENST00000253339.5_Splice_Site	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1						cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TGCACATTCCCTATGGTTATA	0.383000													18	33					0	0	0.038395	0	0
USP32	84669	broad.mit.edu	37	17	58257980	58257980	+	Missense_Mutation	SNP	C	C	T	rs17405746		TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr17:58257980C>T	ENST00000300896.4	-	33	4761	c.4567G>A	c.(4567-4569)Ggt>Agt	p.G1523S	USP32_ENST00000592339.1_Missense_Mutation_p.G1193S	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1523					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TGGCCCCCACCCAGAATTCCT	0.443000													12	22					0	0	0.132662	0	0
HK2	3099	broad.mit.edu	37	2	75116479	75116479	+	Missense_Mutation	SNP	G	G	A	rs148653106		TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr2:75116479G>A	ENST00000290573.2	+	17	3083	c.2483G>A	c.(2482-2484)cGg>cAg	p.R828Q	HK2_ENST00000409174.1_Missense_Mutation_p.R800Q	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	828	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GTGGTGGCCCGGCGGGCAGCC	0.607000													10	17					0	0	0.058154	0	0
TPPP2	122664	broad.mit.edu	37	14	21499180	21499180	+	Silent	SNP	C	C	T			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr14:21499180C>T	ENST00000321760.6	+	3	331	c.183C>T	c.(181-183)aaC>aaT	p.N61N	TPPP2_ENST00000460647.2_Silent_p.N61N|TPPP2_ENST00000530140.2_Silent_p.N61N|NDRG2_ENST00000403829.3_Intron	NM_173846.4	NP_776245.2	P59282	TPPP2_HUMAN	tubulin polymerization-promoting protein family member 2	61						cytoplasm				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		GGGCCAAGAACGCCCGAACCA	0.483000													12	23					0	0	0.093190	0	0
PTDSS1	9791	broad.mit.edu	37	8	97311963	97311963	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr8:97311963G>A	ENST00000517309.1	+	6	968	c.642G>A	c.(640-642)tgG>tgA	p.W214*	PTDSS1_ENST00000518776.1_3'UTR|PTDSS1_ENST00000455950.2_Nonsense_Mutation_p.W68*|PTDSS1_ENST00000522072.1_Nonsense_Mutation_p.W11*	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	214					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	CCGAGTGCTGGTGGGATCAAG	0.493000													47	68					0	0	0.139131	0	0
AKR7L	246181	broad.mit.edu	37	1	19596120	19596120	+	RNA	SNP	G	G	A			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr1:19596120G>A	ENST00000420396.2	-	0	507				AKR7L_ENST00000429712.1_RNA					aldo-keto reductase family 7-like											breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						CAAAGTGCCTGAGGCAGGGGA	0.602000													20	42					0	0	0.062417	0	0
NEK8	284086	broad.mit.edu	37	17	27067575	27067575	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr17:27067575C>G	ENST00000268766.6	+	11	1546	c.1512C>G	c.(1510-1512)atC>atG	p.I504M	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	504						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					TATGTGGTATCGATTCCTCCA	0.587000													28	43					0	0	0.125774	0	0
UGT2B10	7365	broad.mit.edu	37	4	69696413	69696413	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr4:69696413G>A	ENST00000265403.7	+	6	1430	c.1403G>A	c.(1402-1404)cGc>cAc	p.R468H	UGT2B10_ENST00000458688.2_Missense_Mutation_p.R384H	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	468					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TTTGTCATGCGCCACAAAGGA	0.448000													39	60					0	0	0.092188	0	0
HRAS	3265	broad.mit.edu	37	11	534285	534285	+	Missense_Mutation	SNP	C	C	A	rs104894226		TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr11:534285C>A	ENST00000417302.1	-	2	225	c.38G>T	c.(37-39)gGt>gTt	p.G13V	HRAS_ENST00000451590.1_Missense_Mutation_p.G13V|HRAS_ENST00000397594.1_Missense_Mutation_p.G13V|HRAS_ENST00000397596.2_Missense_Mutation_p.G13V|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.G13V	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	13			G -> C (in FCSS).|G -> D (in FCSS).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G13V(14)|p.G13D(10)|p.G12_G13insAG(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	CTTGCCCACACCGCCGGCGCC	0.642000		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			21	12					1.9806e-07	2.06961e-07	0.069288	1	0
MAP3K6	9064	broad.mit.edu	37	1	27682188	27682188	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr1:27682188G>A	ENST00000493901.1	-	29	3999	c.3760C>T	c.(3760-3762)Cga>Tga	p.R1254*	MAP3K6_ENST00000374040.3_Nonsense_Mutation_p.R1246*|MAP3K6_ENST00000357582.2_Nonsense_Mutation_p.R1254*	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	1254					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AGGTCATCTCGAGTGGCATAG	0.527000													9	71					0	0	0.069234	0	0
DNAJC15	29103	broad.mit.edu	37	13	43597852	43597852	+	Silent	SNP	C	C	T			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr13:43597852C>T	ENST00000379221.2	+	1	514	c.90C>T	c.(88-90)gaC>gaT	p.D30D	DNAJC15_ENST00000474320.1_3'UTR	NM_013238.2	NP_037370.2	Q9Y5T4	DJC15_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 15	30						integral to membrane	heat shock protein binding			endometrium(2)|kidney(1)|urinary_tract(1)	4		Lung NSC(96;4.3e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0737)		CAGACGCCGACGTCGACCAGC	0.642000													4	9					0	0	0.014758	0	0
KLKB1	3818	broad.mit.edu	37	4	187171481	187171481	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr4:187171481G>A	ENST00000264690.6	+	7	870	c.683G>A	c.(682-684)cGg>cAg	p.R228Q	KLKB1_ENST00000513864.1_Missense_Mutation_p.R228Q	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	228	Apple 3.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		TTTGTGTGTCGGACCATCTGC	0.463000													26	67					0	0	0.099896	0	0
HCN1	348980	broad.mit.edu	37	5	45262411	45262411	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr5:45262411G>A	ENST00000303230.4	-	8	2342	c.2285C>T	c.(2284-2286)aCg>aTg	p.T762M		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	762						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ATTTTTCGGCGTGGAGCTGCC	0.647000													12	29					0	0	0.093190	0	0
GRIN2A	2903	broad.mit.edu	37	16	9943686	9943686	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr16:9943686C>T	ENST00000396573.2	-	6	1564	c.1255G>A	c.(1255-1257)Gtg>Atg	p.V419M	GRIN2A_ENST00000396575.2_Missense_Mutation_p.V419M|GRIN2A_ENST00000535259.1_Missense_Mutation_p.V262M|GRIN2A_ENST00000404927.2_Missense_Mutation_p.V419M|GRIN2A_ENST00000330684.3_Missense_Mutation_p.V419M|GRIN2A_ENST00000562109.1_Missense_Mutation_p.V419M	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	419					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATGTCTTCCACGATGACGAAT	0.572000													24	45					0	0	0.099896	0	0
NPHP3	27031	broad.mit.edu	37	3	132423041	132423041	+	Splice_Site	SNP	C	C	T			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr3:132423041C>T	ENST00000326682.8	-	9	1601		c.e9+1		NPHP3_ENST00000337331.5_Splice_Site			Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)						maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CAAGCACTTACTTTCTCAAAT	0.343000													37	66					0	0	0.086207	0	0
NFE2L2	4780	broad.mit.edu	37	2	178098956	178098956	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr2:178098956A>T	ENST00000397062.3	-	2	643	c.89T>A	c.(88-90)cTt>cAt	p.L30H	NFE2L2_ENST00000464747.1_Missense_Mutation_p.L14H|NFE2L2_ENST00000397063.4_Missense_Mutation_p.L14H|NFE2L2_ENST00000423513.1_Missense_Mutation_p.L14H|NFE2L2_ENST00000446151.2_Missense_Mutation_p.L14H	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	30					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L30R(2)|p.L30H(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			ACTTACTCCAAGATCTATATC	0.363000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			19	15					0	0	0.043863	0	0
PYGB	5834	broad.mit.edu	37	20	25239873	25239873	+	Splice_Site	SNP	C	C	T			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr20:25239873C>T	ENST00000216962.4	+	2	354	c.243_splice	c.e2-1	p.R82_splice		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	82					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	GCTTCCTCAGCGCATTTATTA	0.478000													10	27					0	0	0.069234	0	0
PTCHD4	442213	broad.mit.edu	37	6	47846396	47846396	+	Silent	SNP	G	G	A			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr6:47846396G>A	ENST00000339488.4	-	3	2217	c.2184C>T	c.(2182-2184)caC>caT	p.H728H		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	728						integral to membrane	hedgehog receptor activity										GTGGTGCACAGTGGTCAATGG	0.438000													8	11					0	0	0.047766	0	0
C7orf57	136288	broad.mit.edu	37	7	48080963	48080963	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr7:48080963G>A	ENST00000348904.3	+	3	300	c.88G>A	c.(88-90)Gag>Aag	p.E30K	C7orf57_ENST00000430738.1_Missense_Mutation_p.E75K|C7orf57_ENST00000539619.1_Missense_Mutation_p.E30K|C7orf57_ENST00000435376.1_5'UTR|C7orf57_ENST00000420324.1_Missense_Mutation_p.E75K	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	30										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						GAAGCGCTCTGAGAAGGCCGT	0.587000													9	25					0	0	0.058154	0	0
ZFHX3	463	broad.mit.edu	37	16	72993515	72993515	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr16:72993515G>A	ENST00000268489.5	-	2	1202	c.530C>T	c.(529-531)gCg>gTg	p.A177V	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	177					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTTGCCCCCCGCGCCAGGGAG	0.637000													12	44					0	0	0.080935	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84609395	84609395	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr9:84609395C>G	ENST00000344803.2	+	4	4057	c.4010C>G	c.(4009-4011)tCc>tGc	p.S1337C		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		AGCAAATCTTCCCCAACCTTG	0.478000													5	9					0	0	0.021553	0	0
GRIA1	2890	broad.mit.edu	37	5	153149755	153149755	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr5:153149755A>T	ENST00000285900.5	+	13	2393	c.2050A>T	c.(2050-2052)Atg>Ttg	p.M684L	GRIA1_ENST00000521843.2_Missense_Mutation_p.M615L|GRIA1_ENST00000448073.4_Missense_Mutation_p.M694L|GRIA1_ENST00000518783.1_Missense_Mutation_p.M694L|GRIA1_ENST00000340592.5_Missense_Mutation_p.M684L|GRIA1_ENST00000518142.1_Missense_Mutation_p.M604L	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	684					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GTTTGAGAAGATGTGGACATA	0.463000													33	62					0	0	0.050027	0	0
DNTTIP1	116092	broad.mit.edu	37	20	44439538	44439538	+	Silent	SNP	C	C	T	rs148278422		TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr20:44439538C>T	ENST00000372622.3	+	12	878	c.810C>T	c.(808-810)atC>atT	p.I270I		NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	270						nucleus				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				ACCTCCTCATCGAGGAGGACA	0.507000													14	28					0	0	0.132662	0	0
ZNF318	24149	broad.mit.edu	37	6	43306213	43306213	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr6:43306213C>A	ENST00000361428.2	-	10	5600	c.5523G>T	c.(5521-5523)ttG>ttT	p.L1841F	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1841					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TTCCTGTCATCAATTTATTGG	0.378000													28	39					2.48779e-11	2.69029e-11	0.108266	1	0
EPN1	29924	broad.mit.edu	37	19	56203254	56203254	+	Silent	SNP	C	C	T			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr19:56203254C>T	ENST00000411543.2	+	7	1702	c.1155C>T	c.(1153-1155)ccC>ccT	p.P385P	EPN1_ENST00000270460.6_Silent_p.P299P|EPN1_ENST00000085079.7_Silent_p.P274P	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN	epsin 1	299	Ala/Gly/Pro-rich.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		GGGGCGGCCCCCCTGTCCCTC	0.756000													9	29					0	0	0.058154	0	0
DNHD1	144132	broad.mit.edu	37	11	6593070	6593070	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr11:6593070T>A	ENST00000254579.6	+	43	14680	c.14116T>A	c.(14116-14118)Tcg>Acg	p.S4706T	DNHD1_ENST00000527990.2_Missense_Mutation_p.S4706T	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4706					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GACTGTGTACTCGTGTCCTGT	0.627000													13	54					0	0	0.119110	0	0
NPEPPS	9520	broad.mit.edu	37	17	45663002	45663002	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr17:45663002A>G	ENST00000322157.4	+	6	1022	c.785A>G	c.(784-786)gAt>gGt	p.D262G	NPEPPS_ENST00000544660.1_Missense_Mutation_p.D182G|NPEPPS_ENST00000530173.1_Missense_Mutation_p.D258G|NPEPPS_ENST00000525037.1_3'UTR	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	262					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						AGGTCAAAAGATGGTGTGTGT	0.418000													45	101					0	0	0.139131	0	0
HLA-DQA2	3118	broad.mit.edu	37	6	32714066	32714066	+	Silent	SNP	C	C	T	rs143176293		TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr6:32714066C>T	ENST00000374940.3	+	4	765	c.663C>T	c.(661-663)tgC>tgT	p.C221C		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	221					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTTTGGTCTGCGCCCTGGGGT	0.552000													28	57					0	0	0.134883	0	0
RSG1	79363	broad.mit.edu	37	1	16559457	16559457	+	Silent	SNP	G	G	A			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr1:16559457G>A	ENST00000375599.3	-	3	740	c.321C>T	c.(319-321)gtC>gtT	p.V107V		NM_030907.3	NP_112169.2	Q9BU20	RSG1_HUMAN	REM2 and RAB-like small GTPase 1	107	Small GTPase-like.				cellular protein localization|cilium assembly|exocytosis|protein transport|regulation of exocytosis|regulation of vesicle fusion|small GTPase mediated signal transduction	cilium|microtubule basal body	GTP binding			large_intestine(2)|lung(2)|pancreas(1)|prostate(1)	6						GAAACATGACGACACGGCTGC	0.577000													22	58					0	0	0.099896	0	0
NBAS	51594	broad.mit.edu	37	2	15557650	15557650	+	Splice_Site	SNP	C	C	A			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr2:15557650C>A	ENST00000281513.5	-	24	2789		c.e24+1		NBAS_ENST00000441750.1_Intron	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence											NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ATAAAACCTACACTATTCATC	0.323000													13	20					0.000219431	0.000224254	0.119110	1	0
MARK2	2011	broad.mit.edu	37	11	63668102	63668102	+	Silent	SNP	G	G	A			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr11:63668102G>A	ENST00000402010.2	+	9	1419	c.840G>A	c.(838-840)ctG>ctA	p.L280L	MARK2_ENST00000509502.2_Silent_p.L247L|MARK2_ENST00000425897.2_Silent_p.L247L|MARK2_ENST00000377809.4_Silent_p.L280L|MARK2_ENST00000361128.5_Silent_p.L280L|MARK2_ENST00000377810.3_Silent_p.L247L|MARK2_ENST00000315032.8_Silent_p.L280L|MARK2_ENST00000513765.2_Silent_p.L247L|MARK2_ENST00000350490.7_Silent_p.L280L|MARK2_ENST00000508192.1_Silent_p.L280L|MARK2_ENST00000502399.3_Silent_p.L280L|MARK2_ENST00000413835.2_Silent_p.L280L|MARK2_ENST00000408948.3_Silent_p.L247L	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	280	Protein kinase.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						GTGAAAACCTGCTTAAGAAAT	0.507000													97	180					0	0	0.139131	0	0
DOPEY1	23033	broad.mit.edu	37	6	83845504	83845504	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr6:83845504C>T	ENST00000349129.2	+	20	3297	c.3037C>T	c.(3037-3039)Cgt>Tgt	p.R1013C	DOPEY1_ENST00000369739.3_Missense_Mutation_p.R1004C|DOPEY1_ENST00000237163.5_Missense_Mutation_p.R994C	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1013					protein transport			p.R1013C(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TTCAGTACAGCGTGTACAAGC	0.433000													40	62					0	0	0.104719	0	0
YBX1	4904	broad.mit.edu	37	1	43166568	43166568	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr1:43166568A>G	ENST00000321358.7	+	7	996	c.857A>G	c.(856-858)aAt>aGt	p.N286S		NM_004559.3	NP_004550.2	P67809	YBOX1_HUMAN	Y box binding protein 1	286					CRD-mediated mRNA stabilization|negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|positive regulation of cell division|transcription from RNA polymerase II promoter	CRD-mediated mRNA stability complex|extracellular region|histone pre-mRNA 3'end processing complex|nucleoplasm|stress granule|U12-type spliceosomal complex	double-stranded DNA binding|protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			large_intestine(2)|lung(4)|ovary(4)|prostate(4)|upper_aerodigestive_tract(2)	16	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CGCAACTTCAATTACCGACGC	0.527000													12	33					0	0	0.105934	0	0
SNRNP48	154007	broad.mit.edu	37	6	7601664	7601664	+	Missense_Mutation	SNP	G	G	A	rs141422613		TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr6:7601664G>A	ENST00000342415.5	+	5	561	c.502G>A	c.(502-504)Gta>Ata	p.V168I		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	168					mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						CTATGATTTCGTAGTTGAGGA	0.378000													23	32					0	0	0.069288	0	0
TP53BP1	7158	broad.mit.edu	37	15	43720231	43720231	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr15:43720231C>T	ENST00000263801.3	-	18	4048	c.3796G>A	c.(3796-3798)Gaa>Aaa	p.E1266K	TP53BP1_ENST00000450115.2_Missense_Mutation_p.E1271K|TP53BP1_ENST00000382039.3_Missense_Mutation_p.E1271K|TP53BP1_ENST00000382044.4_Missense_Mutation_p.E1271K	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1266					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		ACTTTTCTTTCTACTTCTGTT	0.383000								Other conserved DNA damage response genes					39	90					0	0	0.104719	0	0
SNRPA	6626	broad.mit.edu	37	19	41268965	41268965	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr19:41268965C>T	ENST00000243563.3	+	4	1136	c.586C>T	c.(586-588)Ccc>Tcc	p.P196S		NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	196	Pro-rich.					nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			AGGACAGATGCCCCCTGCCCA	0.607000													12	42					0	0	0.093190	0	0
SEPT12	124404	broad.mit.edu	37	16	4833992	4833992	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr16:4833992C>T	ENST00000268231.8	-	5	715	c.452G>A	c.(451-453)cGc>cAc	p.R151H	SEPT12_ENST00000396693.5_Intron	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	151					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						TGGGATGTGGCGCTGGCGGGT	0.642000													4	107					0	0	0.014758	0	0
GRM3	2913	broad.mit.edu	37	7	86415775	86415775	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr7:86415775G>A	ENST00000361669.2	+	3	1766	c.667G>A	c.(667-669)Ggg>Agg	p.G223R	GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.G95R|GRM3_ENST00000394720.2_Missense_Mutation_p.G221R|GRM3_ENST00000439827.1_Missense_Mutation_p.G223R|AC005009.2_ENST00000452471.1_RNA|AC005009.2_ENST00000418031.1_RNA	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	223					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GGGTGATTACGGGGAGACAGG	0.612000													26	42					0	0	0.099896	0	0
SETD2	29072	broad.mit.edu	37	3	47163754	47163754	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr3:47163754G>C	ENST00000409792.3	-	3	2414	c.2372C>G	c.(2371-2373)tCa>tGa	p.S791*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	791					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GTATATGTCTGAATCTTTGGT	0.358000			"""N, F, S, Mis"""		clear cell renal carcinoma								24	47					0	0	0.091800	0	0
SEC14L4	284904	broad.mit.edu	37	22	30891410	30891410	+	Missense_Mutation	SNP	G	G	A	rs145663781	byFrequency	TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr22:30891410G>A	ENST00000392772.2	-	5	369	c.92C>T	c.(91-93)tCg>tTg	p.S31L	SEC14L4_ENST00000540456.1_Missense_Mutation_p.S70L|SEC14L4_ENST00000255858.7_Missense_Mutation_p.S85L|SEC14L4_ENST00000381982.3_Missense_Mutation_p.S85L			Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	85						integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	AAGACCACCCGAGTCATACAG	0.582000													25	44					0	0	0.083992	0	0
TIAM1	7074	broad.mit.edu	37	21	32639148	32639148	+	Silent	SNP	C	C	T			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr21:32639148C>T	ENST00000286827.3	-	5	612	c.141G>A	c.(139-141)gtG>gtA	p.V47V	TIAM1_ENST00000541036.1_Silent_p.V47V|TIAM1_ENST00000469412.1_Intron	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	47					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TCCTGTGGATCACCTTCCCCG	0.627000													7	30					0	0	0.029380	0	0
KIAA0930	23313	broad.mit.edu	37	22	45607844	45607844	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr22:45607844C>T	ENST00000336156.4	-	2	274	c.209G>A	c.(208-210)gGg>gAg	p.G70E	KIAA0930_ENST00000443310.3_Missense_Mutation_p.G52E|KIAA0930_ENST00000391627.2_Missense_Mutation_p.G36E|KIAA0930_ENST00000251993.7_Missense_Mutation_p.G75E	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	70							protein binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						CACCTTCCTCCCGTCTGCACC	0.617000													37	74					0	0	0.092188	0	0
ELF4	2000	broad.mit.edu	37	X	129201147	129201147	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chrX:129201147G>A	ENST00000308167.5	-	9	1920	c.1541C>T	c.(1540-1542)tCt>tTt	p.S514F	ELF4_ENST00000335997.7_Missense_Mutation_p.S514F	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN	E74-like factor 4 (ets domain transcription factor)	514					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						AGGGGGCTGAGAGCTGGGCCC	0.642000			T	ERG	AML								24	10					0	0	0.076483	0	0
IQGAP2	10788	broad.mit.edu	37	5	75991296	75991296	+	Silent	SNP	G	G	A			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr5:75991296G>A	ENST00000274364.6	+	32	4308	c.4011G>A	c.(4009-4011)acG>acA	p.T1337T	IQGAP2_ENST00000502745.1_Silent_p.T833T|CTD-2384B11.2_ENST00000507514.1_RNA|IQGAP2_ENST00000379730.3_Silent_p.T839T|IQGAP2_ENST00000396234.3_Silent_p.T833T	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1337					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		ACCATGCCACGGACATGGTGA	0.433000													12	27					0	0	0.080935	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43826253	43826253	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr12:43826253C>T	ENST00000389420.3	-	21	2949	c.2950G>A	c.(2950-2952)Gga>Aga	p.G984R	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.G138R|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.G984R	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	984	TSP type-1 4.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CTTTCCCCTCCTCCACAACTC	0.368000													18	35					0	0	0.055883	0	0
MPP4	58538	broad.mit.edu	37	2	202509991	202509991	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr2:202509991T>A	ENST00000409474.3	-	22	2063	c.1856A>T	c.(1855-1857)cAg>cTg	p.Q619L	MPP4_ENST00000447335.2_Missense_Mutation_p.Q612L|MPP4_ENST00000428900.2_Missense_Mutation_p.Q595L|MPP4_ENST00000409143.1_Missense_Mutation_p.Q561L|MPP4_ENST00000396886.3_Missense_Mutation_p.Q544L|MPP4_ENST00000359962.5_Missense_Mutation_p.Q619L|MPP4_ENST00000315506.7_Missense_Mutation_p.Q575L	NM_033066.2	NP_149055.1	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	619						cytoplasm	protein binding			kidney(1)|lung(11)	12						AGGCTCCTCCTGAGCCTTCTG	0.443000													20	8					0	0	0.062417	0	0
UGT3A1	133688	broad.mit.edu	37	5	35955843	35955843	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr5:35955843C>T	ENST00000274278.3	-	6	1556	c.1199G>A	c.(1198-1200)cGa>cAa	p.R400Q	UGT3A1_ENST00000507113.1_Missense_Mutation_p.R366Q|UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000503189.1_Missense_Mutation_p.R400Q	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	400						integral to membrane	glucuronosyltransferase activity	p.R400L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGCTACTACTCGGACCATGTT	0.483000													23	50					0	0	0.062417	0	0
AURKC	6795	broad.mit.edu	37	19	57743501	57743501	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr19:57743501G>A	ENST00000302804.7	+	3	391	c.205G>A	c.(205-207)Gtg>Atg	p.V69M	AURKC_ENST00000598785.1_Missense_Mutation_p.V35M|AURKC_ENST00000415300.2_Missense_Mutation_p.V50M|AURKC_ENST00000448930.1_Missense_Mutation_p.V35M|AURKC_ENST00000599062.1_Missense_Mutation_p.V66M	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	69	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		CCATTTCATTGTGGCCCTGAA	0.542000													34	30					0	0	0.054565	0	0
LRP1	4035	broad.mit.edu	37	12	57601972	57601972	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr12:57601972A>G	ENST00000243077.3	+	77	12477	c.12011A>G	c.(12010-12012)cAc>cGc	p.H4004R		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4004					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GACGAGCCCCACGCCATTGTG	0.657000													7	12					0	0	0.058154	0	0
ANO5	203859	broad.mit.edu	37	11	22276979	22276979	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr11:22276979G>C	ENST00000324559.8	+	13	1560	c.1243G>C	c.(1243-1245)Gtg>Ctg	p.V415L		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	415						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATGGGACCTGGTGGACTTTGA	0.363000													52	82					0	0	0.139131	0	0
CACNA1I	8911	broad.mit.edu	37	22	40080509	40080509	+	Silent	SNP	G	G	A			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr22:40080509G>A	ENST00000401624.1	+	36	6033	c.6033G>A	c.(6031-6033)ccG>ccA	p.P2011P	CACNA1I_ENST00000404898.1_Intron|CACNA1I_ENST00000402142.3_Intron|CACNA1I_ENST00000400164.3_Intron|CACNA1I_ENST00000336649.4_Intron|CACNA1I_ENST00000407673.1_Silent_p.P1976P			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	0					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GGCAGGTACCGACACCTCCCA	0.632000													6	7					0	0	0.029380	0	0
ATP4B	496	broad.mit.edu	37	13	114304774	114304774	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr13:114304774G>A	ENST00000335288.4	-	6	702	c.661C>T	c.(661-663)Ccc>Tcc	p.P221S		NM_000705.3	NP_000696.1	P51164	ATP4B_HUMAN	ATPase, H+/K+ exchanging, beta polypeptide	221					ATP biosynthetic process	integral to membrane|plasma membrane	hydrogen:potassium-exchanging ATPase activity|sodium:potassium-exchanging ATPase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.171)		Rabeprazole(DB01129)	GTGCCGTTGGGAGGGTAGTAC	0.622000													24	37					0	0	0.108266	0	0
MARK4	57787	broad.mit.edu	37	19	45774927	45774927	+	Silent	SNP	C	C	T	rs140158030		TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr19:45774927C>T	ENST00000300843.4	+	8	1044	c.747C>T	c.(745-747)ctC>ctT	p.L249L	MARK4_ENST00000262891.4_Silent_p.L249L	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	249	Protein kinase.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TGTACACCCTCGTCAGCGGCT	0.672000													68	42					0	0	0.139131	0	0
NF1	4763	broad.mit.edu	37	17	29657375	29657375	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr17:29657375C>T	ENST00000358273.4	+	39	6054	c.5671C>T	c.(5671-5673)Cag>Tag	p.Q1891*	NF1_ENST00000356175.3_Nonsense_Mutation_p.Q1870*|NF1_ENST00000581113.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1891					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.Q1891*(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AATCGAGGGCCAGTTACTAGA	0.398000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			5	69					0	0	0.014758	0	0
TIAM1	7074	broad.mit.edu	37	21	32639127	32639127	+	Silent	SNP	C	C	G			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr21:32639127C>G	ENST00000286827.3	-	5	633	c.162G>C	c.(160-162)gtG>gtC	p.V54V	TIAM1_ENST00000541036.1_Silent_p.V54V|TIAM1_ENST00000469412.1_Intron	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	54					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						ATCGGGTGCTCACTTCGGAGT	0.637000													10	31					0	0	0.069234	0	0
ARRDC3	57561	broad.mit.edu	37	5	90670932	90670932	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr5:90670932G>A	ENST00000265138.3	-	5	943	c.677C>T	c.(676-678)gCa>gTa	p.A226V		NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	226					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		GTAAATGGCTGCCTTTGGCAC	0.418000													20	38					0	0	0.062417	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072531	17072531	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr22:17072531G>A	ENST00000359963.3	-	1	1169	c.910C>T	c.(910-912)Ctc>Ttc	p.L304F		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	304					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GCCAGTGTGAGGGTCTCCTCG	0.512000													53	81					0	0	0.139131	0	0
PAN3	255967	broad.mit.edu	37	13	28771372	28771372	+	Silent	SNP	A	A	T			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr13:28771372A>T	ENST00000380958.3	+	5	893	c.741A>T	c.(739-741)ggA>ggT	p.G247G	PAN3_ENST00000399613.1_Intron	NM_175854.7	NP_787050.6	Q58A45	PAN3_HUMAN	PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	247	Interaction with polyadenylate-binding protein.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		TTCCGATGGGATCAAAGGCAC	0.493000													5	7					0	0	0.021553	0	0
CACNA1H	8912	broad.mit.edu	37	16	1265063	1265063	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr16:1265063G>A	ENST00000348261.5	+	28	5269	c.5021G>A	c.(5020-5022)cGt>cAt	p.R1674H	CACNA1H_ENST00000565831.1_Missense_Mutation_p.R1668H|CACNA1H_ENST00000358590.4_Missense_Mutation_p.R1668H	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1674					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TTTGGGTTCCGTCGGTTCTTC	0.622000													7	10					0	0	0.047766	0	0
OTOGL	283310	broad.mit.edu	37	12	80707395	80707395	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr12:80707395G>A	ENST00000458043.2	+	30	3569	c.3563G>A	c.(3562-3564)aGa>aAa	p.R1188K	OTOGL_ENST00000547103.1_Missense_Mutation_p.R1188K	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ATTCATTGGAGATCATCTACT	0.348000													12	57					0	0	0.080935	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887606	12887606	+	Missense_Mutation	SNP	C	C	G	rs58074988		TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr1:12887606C>G	ENST00000535591.1	-	3	446	c.251G>C	c.(250-252)tGc>tCc	p.C84S		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	84								p.C84S(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ATTGAGGAAGCACCCATGGGC	0.483000													6	194					0	0	0.047766	0	0
HRAS	3265	broad.mit.edu	37	11	534291	534291	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr11:534291G>T	ENST00000417302.1	-	2	219	c.32C>A	c.(31-33)gCc>gAc	p.A11D	HRAS_ENST00000451590.1_Missense_Mutation_p.A11D|HRAS_ENST00000397594.1_Missense_Mutation_p.A11D|HRAS_ENST00000397596.2_Missense_Mutation_p.A11D|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.A11D	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	11					activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding			adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	CACACCGCCGGCGCCCACCAC	0.652000		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			19	11					3.99206e-14	4.41978e-14	0.043863	1	0
ZNF347	84671	broad.mit.edu	37	19	53643919	53643919	+	Missense_Mutation	SNP	C	C	A	rs150489253	byFrequency	TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr19:53643919C>A	ENST00000452676.2	-	5	2591	c.2165G>T	c.(2164-2166)cGt>cTt	p.R722L	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.R722L|ZNF347_ENST00000334197.7_Missense_Mutation_p.R721L	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	721					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TAGGCTTGAACGGACACTAAA	0.423000													41	168					4.16155e-14	4.55322e-14	0.104719	1	0
SIGLEC1	6614	broad.mit.edu	37	20	3684688	3684688	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr20:3684688G>A	ENST00000344754.4	-	4	756	c.757C>T	c.(757-759)Ctt>Ttt	p.L253F	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.L253F	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	253	Ig-like C2-type 2.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						TCACCTGGAAGGATGTTCCTC	0.577000													18	38					0	0	0.033300	0	0
FAM47B	170062	broad.mit.edu	37	X	34962352	34962352	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chrX:34962352G>A	ENST00000329357.5	+	1	1440	c.1404G>A	c.(1402-1404)tgG>tgA	p.W468*		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	468										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						ACTTCAAGTGGGCTGGAGACC	0.433000													4	45					0	0	0.014758	0	0
TDRD10	126668	broad.mit.edu	37	1	154516537	154516537	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr1:154516537C>T	ENST00000368482.4	+	9	1440	c.602C>T	c.(601-603)aCg>aTg	p.T201M	TDRD10_ENST00000368480.3_Missense_Mutation_p.T201M|TDRD10_ENST00000479937.1_3'UTR	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	tudor domain containing 10	201							nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTGCTGGTGACGAGTATCGTC	0.622000													25	48					0	0	0.108266	0	0
TTC3	7267	broad.mit.edu	37	21	38538338	38538338	+	Silent	SNP	C	C	G			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr21:38538338C>G	ENST00000399017.2	+	33	6569	c.3822C>G	c.(3820-3822)gtC>gtG	p.V1274V	TTC3_ENST00000355666.1_Silent_p.V1274V|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Silent_p.V1274V	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1274					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CCAAAGGGGTCTCTTCTAATT	0.458000													30	53					0	0	0.134883	0	0
NEDD4L	23327	broad.mit.edu	37	18	55711935	55711935	+	Missense_Mutation	SNP	G	G	A	rs12968145		TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr18:55711935G>A	ENST00000382850.4	+	1	156	c.43G>A	c.(43-45)Gac>Aac	p.D15N	NEDD4L_ENST00000256832.7_5'UTR|NEDD4L_ENST00000256830.9_Missense_Mutation_p.D15N|NEDD4L_ENST00000400345.3_Missense_Mutation_p.D15N|NEDD4L_ENST00000589054.1_Missense_Mutation_p.D15N|NEDD4L_ENST00000356462.6_Missense_Mutation_p.D15N	NM_015277.5	NP_056092.2	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	15	C2.				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						ACTTTCCGAAGACGAGGTGAG	0.741000													5	23					0	0	0.029380	0	0
ZNF461	92283	broad.mit.edu	37	19	37130912	37130912	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr19:37130912G>T	ENST00000588268.1	-	6	562	c.335C>A	c.(334-336)tCt>tAt	p.S112Y	ZNF461_ENST00000360357.4_Missense_Mutation_p.S89Y|ZNF461_ENST00000540605.2_5'UTR	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CCTTTTTGGAGATAACTTCTG	0.348000													12	85					2.27111e-07	2.34681e-07	0.093190	1	0
FNDC3B	64778	broad.mit.edu	37	3	172003763	172003763	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr3:172003763G>A	ENST00000336824.4	+	7	937	c.838G>A	c.(838-840)Gag>Aag	p.E280K	FNDC3B_ENST00000416957.1_Missense_Mutation_p.E280K|FNDC3B_ENST00000415807.2_Missense_Mutation_p.E280K	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	280	Fibronectin type-III 1.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		TTCGGGAATAGAGAAACCACA	0.353000													15	38					0	0	0.049695	0	0
KIF1B	23095	broad.mit.edu	37	1	10425476	10425477	+	Frame_Shift_Ins	INS	-	-	C	rs78662124		TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr1:10425476_10425477insC	ENST00000377086.1	+	43	4724_4725	c.4522_4523insC	c.(4522-4524)ccgfs	p.P1508fs	KIF1B_ENST00000263934.6_Frame_Shift_Ins_p.P1462fs|KIF1B_ENST00000377081.1_Frame_Shift_Ins_p.P1508fs			O60333	KIF1B_HUMAN	kinesin family member 1B	1508					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GGTGGAAAAAACCCGCCACTTT	0.505													11	32	---	---	---	---					
ITSN2	50618	broad.mit.edu	37	2	24471709	24471710	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr2:24471709_24471710insT	ENST00000355123.4	-	26	3605_3606	c.3162_3163insA	c.(3160-3165)aactgafs	p.N*1054fs	ITSN2_ENST00000406921.3_Frame_Shift_Ins_p.N*1054fs|ITSN2_ENST00000361999.3_Frame_Shift_Ins_p.N*1027fs	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1054	SH3 4.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TACGTACCAGGTTTTTTATTTG	0.342													24	69	---	---	---	---					
ELF2	1998	broad.mit.edu	37	4	139980327	139980327	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr4:139980327delT	ENST00000394235.2	-	10	2058	c.1556delA	c.(1555-1557)agfs	p.K519fs	ELF2_ENST00000358635.3_Frame_Shift_Del_p.K471fs|ELF2_ENST00000379550.1_Frame_Shift_Del_p.K531fs|ELF2_ENST00000379549.2_Frame_Shift_Del_p.K442fs|ELF2_ENST00000510408.1_Frame_Shift_Del_p.K459fs|ELF2_ENST00000265495.4_Frame_Shift_Del_p.K519fs|ELF2_ENST00000515489.1_Intron	NM_001276458.1	NP_001263387.1	Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription factor)	531					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					CTCTGGCCCCTTTATGACTGC	0.448													63	144	---	---	---	---					
MSH3	4437	broad.mit.edu	37	5	79950742	79950750	+	In_Frame_Del	DEL	CCCCCAGCT	CCCCCAGCT	-	rs3045983		TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr5:79950742_79950750delCCCCCAGCT	ENST00000265081.6	+	1	276_284	c.196_204delCCCCCAGCT	c.(196-204)del	p.PPA66del	DHFR_ENST00000439211.2_5'UTR	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	66					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		gCCCCCAGCGCCCCCAGCTCCCGCCTTCC	0.732								Mismatch excision repair (MMR)					4	8	---	---	---	---					
HLA-B	3106	broad.mit.edu	37	6	31323136	31323137	+	Frame_Shift_Ins	INS	-	-	ATGG	rs41551415		TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr6:31323136_31323137insATGG	ENST00000412585.2	-	4	880_881	c.852_853insCCAT	c.(850-855)catacafs	p.T285fs		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						TCATGCTGTACATGGCATGTGT	0.564									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				8	41	---	---	---	---					
DST	667	broad.mit.edu	37	6	56496014	56496017	+	Frame_Shift_Del	DEL	TATG	TATG	-			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr6:56496014_56496017delTATG	ENST00000370754.5	-	29	4034_4037	c.4035_4038delCATA	c.(4033-4038)tafs	p.YI1345fs	DST_ENST00000312431.6_Frame_Shift_Del_p.YI1167fs|DST_ENST00000361203.3_Frame_Shift_Del_p.YI1167fs|DST_ENST00000244364.6_Frame_Shift_Del_p.YI841fs|DST_ENST00000370769.4_Frame_Shift_Del_p.YI1167fs|DST_ENST00000370788.2_Frame_Shift_Del_p.YI1167fs|DST_ENST00000446842.2_Frame_Shift_Del_p.YI841fs|DST_ENST00000421834.2_Frame_Shift_Del_p.YI1167fs|DST_ENST00000370765.6_Frame_Shift_Del_p.YI841fs|DST_ENST00000518935.1_Frame_Shift_Del_p.YI841fs			Q03001	DYST_HUMAN	dystonin	1167					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CATACTTATCTATGTAAGTGGAAG	0.304													15	47	---	---	---	---					
DST	667	broad.mit.edu	37	6	56496801	56496802	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr6:56496801_56496802delAG	ENST00000370754.5	-	28	3742_3743	c.3743_3744delCT	c.(3742-3744)tfs	p.S1248fs	DST_ENST00000312431.6_Frame_Shift_Del_p.S1070fs|DST_ENST00000361203.3_Frame_Shift_Del_p.S1070fs|DST_ENST00000244364.6_Frame_Shift_Del_p.S744fs|DST_ENST00000370769.4_Frame_Shift_Del_p.S1070fs|DST_ENST00000370788.2_Frame_Shift_Del_p.S1070fs|DST_ENST00000446842.2_Frame_Shift_Del_p.S744fs|DST_ENST00000421834.2_Frame_Shift_Del_p.S1070fs|DST_ENST00000370765.6_Frame_Shift_Del_p.S744fs|DST_ENST00000518935.1_Frame_Shift_Del_p.S744fs			Q03001	DYST_HUMAN	dystonin	1070					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTCGAACTTCAGAGATGTAGAG	0.361													17	37	---	---	---	---					
KRT17	3872	broad.mit.edu	37	17	39780380	39780381	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr17:39780380_39780381insG	ENST00000311208.8	-	1	448_449	c.381_382insC	c.(379-384)cccccgfs	p.PP127fs	JUP_ENST00000540235.1_Intron	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	127	Linker 1.|Rod.				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				TAGTCACGGGCGGGCCCCGGGG	0.644													18	145	---	---	---	---					
SPTBN4	57731	broad.mit.edu	37	19	41076449	41076450	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr19:41076449_41076450insA	ENST00000352632.3	+	33	7220_7221	c.7134_7135insA	c.(7132-7137)ccagccfs	p.A2379fs	SPTBN4_ENST00000392025.1_Frame_Shift_Ins_p.A1122fs|SPTBN4_ENST00000598249.1_Frame_Shift_Ins_p.A2379fs			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2379					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			gggaccggcccaagccgcgacg	0.812													4	3	---	---	---	---					
DGKK	139189	broad.mit.edu	37	X	50165595	50165596	+	RNA	INS	-	-	AC	rs59226442		TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chrX:50165595_50165596insAC	ENST00000376025.2	-	0	816							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TTAAAAGGTAAacacacacaca	0.411													4	4	---	---	---	---					
