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
AKR7L	246181	broad.mit.edu	37	1	19597014	19597014	+	RNA	SNP	G	G	T			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr1:19597014G>T	ENST00000420396.2	-	0	437				AKR7L_ENST00000429712.1_RNA					aldo-keto reductase family 7-like											breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						CTTCCCAGGCGGCATAGTTGG	0.622													3	74	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39888543	39888543	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr1:39888543G>C	ENST00000564288.1	+	60	16897	c.16120G>C	c.(16120-16122)Gtg>Ctg	p.V5374L	MACF1_ENST00000289893.4_Missense_Mutation_p.V3814L|MACF1_ENST00000539005.1_Missense_Mutation_p.V3291L|MACF1_ENST00000361689.2_Missense_Mutation_p.V3312L|MACF1_ENST00000372915.3_Missense_Mutation_p.V5379L|MACF1_ENST00000545844.1_Missense_Mutation_p.V3312L|MACF1_ENST00000317713.7_Missense_Mutation_p.V3312L|MACF1_ENST00000567887.1_Missense_Mutation_p.V5411L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5379					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGAGTATAAAGTGGTGAAAGC	0.458													4	29	---	---	---	---
SYCP1	6847	broad.mit.edu	37	1	115489915	115489915	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr1:115489915C>A	ENST00000369522.3	+	27	2536	c.2296C>A	c.(2296-2298)Caa>Aaa	p.Q766K	SYCP1_ENST00000369518.1_Missense_Mutation_p.Q766K	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	766					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTTAAGAAGCAACTTGAAAT	0.318													12	58	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237753955	237753955	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr1:237753955G>A	ENST00000366574.2	+	31	4140	c.3823G>A	c.(3823-3825)Ggc>Agc	p.G1275S	RYR2_ENST00000542537.1_Missense_Mutation_p.G1259S|RYR2_ENST00000360064.6_Missense_Mutation_p.G1273S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1275	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.G1273R(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAGAATAGACGGCACCATAGA	0.423													19	105	---	---	---	---
LRRTM1	347730	broad.mit.edu	37	2	80529936	80529936	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr2:80529936C>T	ENST00000295057.3	-	2	1665	c.1009G>A	c.(1009-1011)Gat>Aat	p.D337N	CTNNA2_ENST00000541047.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.D337N|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	337	LRRCT.					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						AAGTTGCCATCGTAGCGCCCC	0.657										HNSCC(69;0.2)			4	22	---	---	---	---
EIF2AK3	9451	broad.mit.edu	37	2	88874185	88874185	+	Splice_Site	SNP	T	T	C			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr2:88874185T>C	ENST00000303236.3	-	13	3117	c.2816A>G	c.(2815-2817)aAg>aGg	p.K939R	AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000470706.1_5'UTR|EIF2AK3_ENST00000419748.1_Splice_Site_p.K788R	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	939	Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						AATACAGACCTTGAGGTCCCT	0.488													4	17	---	---	---	---
ALPP	250	broad.mit.edu	37	2	233246234	233246234	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr2:233246234C>T	ENST00000392027.2	+	11	1606	c.1337C>T	c.(1336-1338)gCa>gTa	p.A446V	AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	446						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CAGCAGTCAGCAGTGCCCCTG	0.667													10	22	---	---	---	---
ZBBX	79740	broad.mit.edu	37	3	167000276	167000276	+	Silent	SNP	T	T	C			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr3:167000276T>C	ENST00000392766.2	-	19	2227	c.1887A>G	c.(1885-1887)aaA>aaG	p.K629K	ZBBX_ENST00000392767.2_Silent_p.K629K|ZBBX_ENST00000455345.2_Silent_p.K668K|ZBBX_ENST00000392764.1_Silent_p.K600K|ZBBX_ENST00000307529.5_Silent_p.K668K	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	629						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						GTCTCTGTGATTTCTGACCTA	0.353													3	70	---	---	---	---
OPA1	4976	broad.mit.edu	37	3	193361334	193361334	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr3:193361334G>A	ENST00000361510.2	+	15	1629	c.1395G>A	c.(1393-1395)atG>atA	p.M465I	OPA1_ENST00000361715.2_Missense_Mutation_p.M429I|OPA1_ENST00000361908.3_Missense_Mutation_p.M447I|OPA1_ENST00000392438.3_Missense_Mutation_p.M410I|OPA1_ENST00000361828.2_Missense_Mutation_p.M428I|OPA1_ENST00000361150.2_Missense_Mutation_p.M411I	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	410					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		CATCAGGCATGGCTCCTGACA	0.308													11	46	---	---	---	---
YTHDC1	91746	broad.mit.edu	37	4	69198540	69198540	+	Silent	SNP	T	T	C			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr4:69198540T>C	ENST00000344157.4	-	6	1334	c.999A>G	c.(997-999)ttA>ttG	p.L333L	YTHDC1_ENST00000355665.3_Intron|YTHDC1_ENST00000579690.1_Silent_p.L333L	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	333										NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						CGGAAGATGATAATTTCTCAT	0.328													4	46	---	---	---	---
CPA5	93979	broad.mit.edu	37	7	129989880	129989880	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr7:129989880A>G	ENST00000485477.1	+	4	1392	c.263A>G	c.(262-264)gAa>gGa	p.E88G	CPA5_ENST00000461828.1_Missense_Mutation_p.E88G|CPA5_ENST00000431780.2_Missense_Mutation_p.E88G|CPA5_ENST00000466363.2_Missense_Mutation_p.E88G|CPA5_ENST00000393213.3_Missense_Mutation_p.E88G|CPA5_ENST00000474905.1_Missense_Mutation_p.E88G|CPA5_ENST00000355388.3_Missense_Mutation_p.E88G			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	88					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					CCTTTCTCTGAACTGAAAGAC	0.527													11	101	---	---	---	---
ZNF33B	7582	broad.mit.edu	37	10	43088476	43088476	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr10:43088476T>A	ENST00000359467.3	-	5	2036	c.1922A>T	c.(1921-1923)gAg>gTg	p.E641V	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	641						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TTTTCCACACTCATTACATTC	0.388													4	107	---	---	---	---
KAT6B	23522	broad.mit.edu	37	10	76735743	76735743	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr10:76735743A>T	ENST00000287239.4	+	8	2137	c.1648A>T	c.(1648-1650)Atc>Ttc	p.I550F	KAT6B_ENST00000372711.1_Intron|KAT6B_ENST00000372714.1_Intron|KAT6B_ENST00000372725.1_Intron|KAT6B_ENST00000372724.1_Intron	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	550	Negatively regulates HAT activity.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										GCTTTCTCATATCTATACCAC	0.512													9	59	---	---	---	---
RRM1	6240	broad.mit.edu	37	11	4130915	4130915	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr11:4130915C>A	ENST00000300738.5	+	5	633	c.429C>A	c.(427-429)taC>taA	p.Y143*	RRM1_ENST00000423050.2_Nonsense_Mutation_p.Y46*	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	143					deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	ATTTCTCTTACAATTACTTCG	0.294													3	41	---	---	---	---
NLRP10	338322	broad.mit.edu	37	11	7982031	7982031	+	Missense_Mutation	SNP	C	C	A	rs74451065		TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr11:7982031C>A	ENST00000328600.2	-	2	1289	c.1128G>T	c.(1126-1128)gaG>gaT	p.E376D		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	376	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTCTAGGTGTCTCTAAGACAA	0.547													10	26	---	---	---	---
SCGB1A1	7356	broad.mit.edu	37	11	62189705	62189705	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr11:62189705T>C	ENST00000278282.2	+	2	129	c.68T>C	c.(67-69)aTc>aCc	p.I23T	CTD-2531D15.4_ENST00000528983.1_RNA|SCGB1A1_ENST00000534397.1_5'UTR	NM_003357.4	NP_003348.1	P11684	UTER_HUMAN	secretoglobin, family 1A, member 1 (uteroglobin)	23					embryo implantation|signal transduction	extracellular region	binding|phospholipase A2 inhibitor activity			lung(1)	1						TCTGCAGAGATCTGCCCGAGC	0.557													3	65	---	---	---	---
FLI1	2313	broad.mit.edu	37	11	128680431	128680431	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr11:128680431G>A	ENST00000527786.2	+	9	1396	c.907G>A	c.(907-909)Gag>Aag	p.E303K	FLI1_ENST00000281428.8_Missense_Mutation_p.E237K|FLI1_ENST00000344954.6_Missense_Mutation_p.E270K|FLI1_ENST00000534087.2_Missense_Mutation_p.E270K|FLI1_ENST00000525560.1_Missense_Mutation_p.E110K	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor						hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		TATCACCTGGGAGGGGACCAA	0.617			T	EWSR1	Ewing sarcoma								3	9	---	---	---	---
SCYL2	55681	broad.mit.edu	37	12	100706228	100706228	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr12:100706228G>C	ENST00000360820.2	+	6	1086	c.649G>C	c.(649-651)Gaa>Caa	p.E217Q		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	217	Protein kinase.				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						TCCTTGTAAAGAATGGGACCC	0.343													3	41	---	---	---	---
DTX1	1840	broad.mit.edu	37	12	113532986	113532986	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr12:113532986A>G	ENST00000257600.3	+	7	2029	c.1526A>G	c.(1525-1527)tAt>tGt	p.Y509C	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	509					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CGCATCGTCTATGACATCCCC	0.652													21	117	---	---	---	---
IPO5	3843	broad.mit.edu	37	13	98655152	98655152	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr13:98655152A>G	ENST00000261574.5	+	16	1592	c.1412A>G	c.(1411-1413)cAa>cGa	p.Q471R	IPO5_ENST00000539640.1_Missense_Mutation_p.Q328R|IPO5_ENST00000490680.1_Missense_Mutation_p.Q453R	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	453					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						ATGGAAGACCAAGGCAATCAA	0.453													6	20	---	---	---	---
TEP1	7011	broad.mit.edu	37	14	20856080	20856080	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr14:20856080G>A	ENST00000262715.5	-	18	2708	c.2668C>T	c.(2668-2670)Cct>Tct	p.P890S	TEP1_ENST00000556935.1_Missense_Mutation_p.P782S	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	890					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TGGGAAACAGGAGCCAAGGGG	0.542													17	88	---	---	---	---
VRTN	55237	broad.mit.edu	37	14	74825501	74825501	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr14:74825501A>T	ENST00000256362.4	+	2	2256	c.2015A>T	c.(2014-2016)aAg>aTg	p.K672M		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	672					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CCCTCCTACAAGGAGTTCAGT	0.567													24	74	---	---	---	---
SPTLC2	9517	broad.mit.edu	37	14	78021768	78021768	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr14:78021768C>A	ENST00000216484.2	-	8	1244	c.1051G>T	c.(1051-1053)Gcc>Tcc	p.A351S		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	351						integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	p.A351S(1)		kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GGGCCCAGGGCGCCAATGCTG	0.522													3	99	---	---	---	---
FAM174B	400451	broad.mit.edu	37	15	93173520	93173520	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr15:93173520C>G	ENST00000327355.5	-	2	698	c.400G>C	c.(400-402)Gag>Cag	p.E134Q	FAM174B_ENST00000553393.1_5'UTR|FAM174B_ENST00000555748.1_5'UTR|FAM174B_ENST00000555696.1_5'UTR|FAM174B_ENST00000555064.1_5'UTR	NM_207446.2	NP_997329.2	Q3ZCQ3	F174B_HUMAN	family with sequence similarity 174, member B	134						integral to membrane				endometrium(2)|lung(1)	3						TCCACTCGCTCTGCTGGAGTG	0.478													8	26	---	---	---	---
CDH5	1003	broad.mit.edu	37	16	66422319	66422319	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr16:66422319G>A	ENST00000341529.3	+	4	740	c.592G>A	c.(592-594)Gag>Aag	p.E198K	CDH5_ENST00000563425.2_Missense_Mutation_p.E198K	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	198	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		GAAGGGGAAAGAGTATTTTGC	0.527													23	122	---	---	---	---
CYP2S1	29785	broad.mit.edu	37	19	41704492	41704492	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr19:41704492G>C	ENST00000310054.4	+	4	835	c.619G>C	c.(619-621)Ggt>Cgt	p.G207R	CYP2S1_ENST00000542619.1_Intron	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	207					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						GGCAGCTGGTGGTACCCTGCT	0.627													8	114	---	---	---	---
PLEKHA4	57664	broad.mit.edu	37	19	49364696	49364696	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr19:49364696C>A	ENST00000263265.6	-	5	883	c.328G>T	c.(328-330)Ggg>Tgg	p.G110W	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.G110W	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	110	PH.					cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GCTCCCGGCCCATCTGGTCTA	0.612													7	78	---	---	---	---
CLCNKB	1188	broad.mit.edu	37	1	16375645	16375646	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr1:16375645_16375646delCC	ENST00000375679.4	+	8	797_798	c.686_687delCC	c.(685-687)tccfs	p.S229fs	CLCNKB_ENST00000375667.3_Frame_Shift_Del_p.S60fs	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		GTCATGTCTTCCCACTTCTCTG	0.634													23	131	---	---	---	---
