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
CEP76	79959	broad.mit.edu	37	18	12699187	12699187	+	Missense_Mutation	SNP	G	G	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr18:12699187G>T	ENST00000262127.2	-	4	536	c.311C>A	c.(310-312)aCa>aAa	p.T104K	CEP76_ENST00000586887.1_Intron|CEP76_ENST00000423709.2_Intron|RP11-973H7.2_ENST00000585331.1_RNA	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	104					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding	p.T104K(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATACCTCCGTGTTGGATCAAT	0.363000													7	82					0.000157383	0.000169647	0.003080	1	0
PGM2	55276	broad.mit.edu	37	4	37847254	37847254	+	Splice_Site	SNP	A	A	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr4:37847254A>T	ENST00000381967.4	+	8	1010	c.909_splice	c.e8-1	p.T304_splice	PGM2_ENST00000544359.1_Splice_Site_p.T165_splice|PGM2_ENST00000537241.1_Splice_Site_p.T144_splice	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	304					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity	p.T304S(1)		breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						TCTTCTTCAGACTTTGTCTTT	0.368000													8	127					0	0	0.003080	0	0
ZAP70	7535	broad.mit.edu	37	2	98354270	98354270	+	Silent	SNP	C	C	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr2:98354270C>A	ENST00000264972.5	+	12	1748	c.1533C>A	c.(1531-1533)atC>atA	p.I511I	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Silent_p.I204I|ZAP70_ENST00000442208.1_Silent_p.I385I	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	511	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	p.I511I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						CCGAATGCATCAACTTCCGCA	0.637000													21	144					5.45024e-15	6.85409e-15	0.018920	1	0
DHRS2	10202	broad.mit.edu	37	14	24108557	24108557	+	Missense_Mutation	SNP	G	G	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr14:24108557G>T	ENST00000250383.6	+	3	786	c.310G>T	c.(310-312)Gtg>Ttg	p.V104L	DHRS2_ENST00000553896.1_3'UTR|DHRS2_ENST00000344777.7_Missense_Mutation_p.V104L	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	82					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity	p.V104L(2)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		GGAGCAGCTGGTGGCCAAGGT	0.637000													4	24					0.00909568	0.00932026	0.009096	1	0
WDFY3	23001	broad.mit.edu	37	4	85605244	85605244	+	Missense_Mutation	SNP	T	T	C			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr4:85605244T>C	ENST00000322366.6	-	62	9934	c.9527A>G	c.(9526-9528)cAt>cGt	p.H3176R	WDFY3_ENST00000295888.4_Missense_Mutation_p.H3193R			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3193						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	p.H3193R(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GCTCCACACATGGATATATGT	0.493000													13	22					0	0	0.013537	0	0
C11orf16	56673	broad.mit.edu	37	11	8942930	8942930	+	Missense_Mutation	SNP	C	C	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr11:8942930C>T	ENST00000326053.5	-	6	1443	c.1337G>A	c.(1336-1338)gGg>gAg	p.G446E	C11orf16_ENST00000525780.1_Intron	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	446								p.G446E(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		TTCAGCTTCCCCTGGCGGGGT	0.522000													8	125					0	0	0.006214	0	0
ATP10D	57205	broad.mit.edu	37	4	47559751	47559751	+	Nonsense_Mutation	SNP	G	G	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr4:47559751G>A	ENST00000273859.3	+	12	2164	c.1895G>A	c.(1894-1896)tGg>tAg	p.W632*	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	632					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.W632*(1)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TTCCAGAGATGGTCTGTCCGA	0.448000													18	51					0	0	0.006122	0	0
MTG2	26164	broad.mit.edu	37	20	60770918	60770918	+	Missense_Mutation	SNP	G	G	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr20:60770918G>T	ENST00000370823.3	+	3	283	c.265G>T	c.(265-267)Gca>Tca	p.A89S	MTG2_ENST00000536470.1_5'UTR|MTG2_ENST00000436421.2_Missense_Mutation_p.A89S	NM_015666.3	NP_056481.1			mitochondrial ribosome-associated GTPase 2									p.A89S(1)									AGGCGCTGGGGCAAGCTGCTT	0.567000													18	31					1.96292e-10	2.43168e-10	0.010504	1	0
CCDC39	339829	broad.mit.edu	37	3	180349366	180349366	+	Missense_Mutation	SNP	T	T	C			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr3:180349366T>C	ENST00000273654.4	-	20	2760	c.2141A>G	c.(2140-2142)gAg>gGg	p.E714G	CCDC39_ENST00000442201.2_Missense_Mutation_p.E630G			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	630					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		p.E630G(1)|p.E714G(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			ACTTAGCCGCTCGCGAAACTC	0.348000													17	10					0	0	0.004990	0	0
TCHH	7062	broad.mit.edu	37	1	152084547	152084547	+	Silent	SNP	C	C	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr1:152084547C>T	ENST00000368804.1	-	2	1145	c.1146G>A	c.(1144-1146)caG>caA	p.Q382Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	382	8 X 6 AA tandem repeats of R-R-E-Q-Q-L.				keratinization	cytoskeleton	calcium ion binding	p.Q382Q(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			cgcgcctcagctgctgctcgc	0.721000													5	12					0	0	0.001168	0	0
QPCTL	54814	broad.mit.edu	37	19	46202151	46202151	+	Silent	SNP	G	G	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr19:46202151G>A	ENST00000012049.5	+	5	1100	c.879G>A	c.(877-879)agG>agA	p.R293R	QPCTL_ENST00000366382.4_Silent_p.R199R	NM_017659.3	NP_060129.2	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like	293					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	Golgi membrane|integral to membrane	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding	p.R293R(1)		breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		ATCGGCTGAGGAGCATTGGTA	0.607000													5	66					0	0	0.014758	0	0
CENPF	1063	broad.mit.edu	37	1	214815962	214815962	+	Silent	SNP	G	G	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr1:214815962G>A	ENST00000366955.3	+	12	4449	c.4281G>A	c.(4279-4281)caG>caA	p.Q1427Q		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1522					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	p.Q1427Q(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGCACTGTCAGATGAGCTCTA	0.378000													4	39					0	0	0.009096	0	0
NKAPL	222698	broad.mit.edu	37	6	28227351	28227351	+	Missense_Mutation	SNP	C	C	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr6:28227351C>T	ENST00000343684.3	+	1	254	c.202C>T	c.(202-204)Cgc>Tgc	p.R68C		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	68								p.R68C(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						CCCCTTTAGTCGCTCTGGGTC	0.612000													5	62					0	0	0.014758	0	0
LAMA3	3909	broad.mit.edu	37	18	21402219	21402219	+	Missense_Mutation	SNP	G	G	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr18:21402219G>A	ENST00000313654.9	+	20	2549	c.2308G>A	c.(2308-2310)Gat>Aat	p.D770N	LAMA3_ENST00000399516.3_Missense_Mutation_p.D770N	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	770					cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.D770N(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTTTCAGAATGATGTAAGAAT	0.373000													9	57					0	0	0.006214	0	0
TP53	7157	broad.mit.edu	37	17	7577090	7577090	+	Missense_Mutation	SNP	C	C	G			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr17:7577090C>G	ENST00000420246.2	-	8	980	c.848G>C	c.(847-849)cGc>cCc	p.R283P	TP53_ENST00000455263.2_Missense_Mutation_p.R283P|TP53_ENST00000359597.4_Missense_Mutation_p.R283P|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R283P|TP53_ENST00000269305.4_Missense_Mutation_p.R283P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	283	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R283P(27)|p.R283H(13)|p.0?(8)|p.R283L(4)|p.R283fs*23(2)|p.?(2)|p.R283fs*16(2)|p.A276_R283delACPGRDRR(1)|p.R283del(1)|p.R283fs*22(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCCTCTGTGCGCCGGTCTCT	0.562000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			11	15					0	0	0.008291	0	0
HECW1	23072	broad.mit.edu	37	7	43360276	43360276	+	Missense_Mutation	SNP	G	G	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr7:43360276G>A	ENST00000395891.1	+	5	1000	c.395G>A	c.(394-396)gGa>gAa	p.G132E	HECW1_ENST00000453890.1_Missense_Mutation_p.G132E	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	132					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.G132E(1)|p.G111E(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AAAAACCGTGGAGTCAATGGT	0.448000													9	62					0	0	0.010729	0	0
UTRN	7402	broad.mit.edu	37	6	145124171	145124171	+	Splice_Site	SNP	G	G	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr6:145124171G>T	ENST00000367545.3	+	64	9245		c.e64-1		UTRN_ENST00000367526.4_Splice_Site	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin						muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GTTTTCTCTAGGTATAGAAGC	0.318000													38	38					6.97489e-18	8.90639e-18	0.021022	1	0
MAP3K11	4296	broad.mit.edu	37	11	65375118	65375118	+	Missense_Mutation	SNP	C	C	G			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr11:65375118C>G	ENST00000309100.3	-	4	1724	c.1239G>C	c.(1237-1239)aaG>aaC	p.K413N	MAP3K11_ENST00000530153.1_Missense_Mutation_p.K156N	NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase 11	413	Leucine-zipper 1.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity	p.K413N(1)		breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						GCACCTTTTCCTTGGCTCGCA	0.637000													22	29					0	0	0.018920	0	0
LAMA3	3909	broad.mit.edu	37	18	21399920	21399920	+	Missense_Mutation	SNP	G	G	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr18:21399920G>A	ENST00000313654.9	+	19	2504	c.2263G>A	c.(2263-2265)Gag>Aag	p.E755K	LAMA3_ENST00000399516.3_Missense_Mutation_p.E755K	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	755					cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.E755K(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCATTTCCTGAGTTTAGCTG	0.478000													8	49					0	0	0.004482	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971025	21971025	+	Missense_Mutation	SNP	G	G	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr9:21971025G>A	ENST00000579755.1	-	2	668	c.376C>T	c.(376-378)Ccg>Tcg	p.P126S	CDKN2A_ENST00000530628.2_Missense_Mutation_p.P126S|CDKN2A_ENST00000494262.1_Silent_p.G60G|CDKN2A_ENST00000498124.1_Silent_p.G111G|CDKN2A_ENST00000579122.1_Silent_p.G111G|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P167S|CDKN2A_ENST00000446177.1_Silent_p.G111G|CDKN2A_ENST00000497750.1_Silent_p.G60G|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Silent_p.G60G|CDKN2A_ENST00000304494.5_Silent_p.G111G|CDKN2A_ENST00000498628.2_Silent_p.G60G|CDKN2A_ENST00000479692.2_Silent_p.G60G			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0			V -> D (in CMM2; impairs the function).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.G111G(3)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.P167S(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.R112fs*32(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CGGGCAGACGGCCCCAGGCAT	0.736000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			5	5					0	0	0.014758	0	0
FAT1	2195	broad.mit.edu	37	4	187519168	187519168	+	Missense_Mutation	SNP	C	C	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr4:187519168C>A	ENST00000441802.2	-	23	12424	c.12215G>T	c.(12214-12216)gGa>gTa	p.G4072V	FAT1_ENST00000512347.1_5'UTR	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4072	EGF-like 3.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.G4072V(1)|p.G4075V(1)|p.G4075E(1)|p.G4072E(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AACAAAGCCTCCGTTGTCGAC	0.413000										HNSCC(5;0.00058)			10	47					7.48243e-07	8.50742e-07	0.006214	1	0
PTPN13	5783	broad.mit.edu	37	4	87696609	87696609	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr4:87696609G>T	ENST00000436978.1	+	35	6190	c.5710G>T	c.(5710-5712)Gga>Tga	p.G1904*	PTPN13_ENST00000427191.2_Nonsense_Mutation_p.G1880*|PTPN13_ENST00000316707.6_Nonsense_Mutation_p.G1708*|PTPN13_ENST00000411767.2_Nonsense_Mutation_p.G1899*|PTPN13_ENST00000511467.1_Nonsense_Mutation_p.G1904*	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1899	PDZ 5.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	p.G1904*(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TTCCTTATGTGGAGGTCATGA	0.338000													3	17					0.004672	0.0048472	0.004672	1	0
CSMD1	64478	broad.mit.edu	37	8	3224649	3224649	+	Missense_Mutation	SNP	G	G	A	rs147113316	by1000genomes	TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr8:3224649G>A	ENST00000520002.1	-	21	3578	c.3023C>T	c.(3022-3024)aCg>aTg	p.T1008M	CSMD1_ENST00000602723.1_Missense_Mutation_p.T1008M|CSMD1_ENST00000400186.3_Missense_Mutation_p.T1008M|CSMD1_ENST00000602557.1_Missense_Mutation_p.T1008M|CSMD1_ENST00000542608.1_Missense_Mutation_p.T1007M|CSMD1_ENST00000539096.1_Missense_Mutation_p.T1007M|CSMD1_ENST00000537824.1_Missense_Mutation_p.T1007M			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1008	CUB 6.					integral to membrane		p.T736M(1)|p.T1007M(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGCCTTGATCGTATGAGGCAA	0.478000													5	24					0	0	0.001168	0	0
ACAT1	38	broad.mit.edu	37	11	108010912	108010912	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr11:108010912G>T	ENST00000265838.4	+	7	791	c.700G>T	c.(700-702)Gaa>Taa	p.E234*		NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1	234					acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	acetyl-CoA C-acetyltransferase activity|metal ion binding	p.E234*(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	ATTTGGAAATGAAGTTATTCC	0.343000													6	94					8.12818e-05	8.87683e-05	0.001984	1	0
NPHP1	4867	broad.mit.edu	37	2	110904346	110904346	+	Missense_Mutation	SNP	C	C	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr2:110904346C>A	ENST00000316534.4	-	14	1577	c.1504G>T	c.(1504-1506)Gtt>Ttt	p.V502F	NPHP1_ENST00000393272.3_Missense_Mutation_p.V501F|NPHP1_ENST00000355301.4_Missense_Mutation_p.V383F|NPHP1_ENST00000445609.2_Missense_Mutation_p.V446F|NPHP1_ENST00000417665.1_Missense_Mutation_p.V445F			O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	501					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity	p.V502F(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						GGAATAGGAACTCCACTGGCA	0.353000													8	103					3.09899e-07	3.62276e-07	0.004482	1	0
MYH13	8735	broad.mit.edu	37	17	10248922	10248922	+	Silent	SNP	C	C	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr17:10248922C>T	ENST00000418404.3	-	13	1438	c.1275G>A	c.(1273-1275)tcG>tcA	p.S425S	MYH13_ENST00000570743.1_Silent_p.S425S|MYH13_ENST00000252172.4_Silent_p.S425S			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	425	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.S425S(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GAGCACCCACCGAATTGGTCA	0.478000													7	102					0	0	0.004482	0	0
CNTNAP5	129684	broad.mit.edu	37	2	124783277	124783277	+	Missense_Mutation	SNP	G	G	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr2:124783277G>T	ENST00000431078.1	+	1	414	c.50G>T	c.(49-51)gGc>gTc	p.G17V	CNTNAP5_ENST00000423939.2_3'UTR	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	17					cell adhesion|signal transduction	integral to membrane	receptor binding	p.G17V(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTGTTCTCTGGCTTGTGGCAT	0.512000													7	70					7.48243e-07	8.50742e-07	0.006214	1	0
SGMS2	166929	broad.mit.edu	37	4	108831634	108831634	+	Silent	SNP	T	T	G			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr4:108831634T>G	ENST00000394684.4	+	7	1580	c.1023T>G	c.(1021-1023)ccT>ccG	p.P341P	SGMS2_ENST00000359079.4_Silent_p.P341P|SGMS2_ENST00000394686.3_Silent_p.P341P|RP11-286E11.1_ENST00000499098.1_RNA|RP11-286E11.1_ENST00000513071.1_RNA	NM_001136258.1	NP_001129730.1	Q8NHU3	SMS2_HUMAN	sphingomyelin synthase 2	341					sphingomyelin biosynthetic process	integral to Golgi membrane|integral to plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity	p.P341P(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)	Choline(DB00122)	CTTGGCCTCCTGGCTGCTTCA	0.443000													7	33					0	0	0.001984	0	0
FSTL5	56884	broad.mit.edu	37	4	162307290	162307290	+	Missense_Mutation	SNP	A	A	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr4:162307290A>T	ENST00000306100.5	-	16	2589	c.2153T>A	c.(2152-2154)gTt>gAt	p.V718D	FSTL5_ENST00000379164.4_Missense_Mutation_p.V717D|FSTL5_ENST00000536695.1_Missense_Mutation_p.V717D|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000427802.2_Missense_Mutation_p.V708D	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	718						extracellular region	calcium ion binding	p.V718D(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AATGTACTGAACCCTTACAAG	0.423000													16	42					0	0	0.003163	0	0
SLC1A3	6507	broad.mit.edu	37	5	36671141	36671141	+	Silent	SNP	G	G	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr5:36671141G>A	ENST00000265113.4	+	4	806	c.330G>A	c.(328-330)gcG>gcA	p.A110A	SLC1A3_ENST00000381918.3_Silent_p.A110A|CTD-2353F22.1_ENST00000510740.1_RNA	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	110					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.A110A(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	GAATGGCGGCGCTAGATAGTA	0.453000													4	39					0	0	0.014758	0	0
HECW1	23072	broad.mit.edu	37	7	43360301	43360301	+	Silent	SNP	G	G	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr7:43360301G>A	ENST00000395891.1	+	5	1025	c.420G>A	c.(418-420)caG>caA	p.Q140Q	HECW1_ENST00000453890.1_Silent_p.Q140Q	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	140					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.Q119Q(1)|p.Q140Q(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ATCGGGGCCAGATCATCTGGA	0.458000													11	65					0	0	0.016723	0	0
MYO6	4646	broad.mit.edu	37	6	76623792	76623792	+	Missense_Mutation	SNP	C	C	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr6:76623792C>T	ENST00000369981.3	+	34	3734	c.3455C>T	c.(3454-3456)cCa>cTa	p.P1152L	MYO6_ENST00000369985.4_Missense_Mutation_p.P1128L|MYO6_ENST00000369975.1_Missense_Mutation_p.P1119L|MYO6_ENST00000369977.3_Missense_Mutation_p.P1151L			Q9UM54	MYO6_HUMAN	myosin VI	1160					actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	p.P1151L(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		CAGCAAAACCCAGCAGCTCAG	0.458000													15	50					0	0	0.003163	0	0
AC008103.5	0	broad.mit.edu	37	22	18842438	18842438	+	RNA	SNP	G	G	A	rs9604886		TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr22:18842438G>A	ENST00000412938.1	+	0	2208																											TGGGGAAGAGGAGAGTGGCTC	0.627000													3	4					0	0	0.009096	0	0
LAMA3	3909	broad.mit.edu	37	18	21402226	21402226	+	Missense_Mutation	SNP	G	G	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr18:21402226G>A	ENST00000313654.9	+	20	2556	c.2315G>A	c.(2314-2316)aGa>aAa	p.R772K	LAMA3_ENST00000399516.3_Missense_Mutation_p.R772K	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	772					cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.R772K(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AATGATGTAAGAATAACATTG	0.363000													7	61					0	0	0.004482	0	0
GABRA4	2557	broad.mit.edu	37	4	46966989	46966989	+	Missense_Mutation	SNP	G	G	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr4:46966989G>T	ENST00000264318.3	-	8	2114	c.1132C>A	c.(1132-1134)Cag>Aag	p.Q378K		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	378					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.Q378K(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCAAATACCTGCAGAGGGGCT	0.408000													14	74					3.27435e-08	3.88245e-08	0.020292	1	0
PEG3	5178	broad.mit.edu	37	19	57328566	57328566	+	Missense_Mutation	SNP	G	G	C			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr19:57328566G>C	ENST00000326441.9	-	10	1607	c.1244C>G	c.(1243-1245)cCc>cGc	p.P415R	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.P289R|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.P291R|PEG3_ENST00000423103.2_Missense_Mutation_p.P415R|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	415					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P415R(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ACATTCAAAGGGCTTCTTCCT	0.493000													22	116					0	0	0.014323	0	0
NCOA6	23054	broad.mit.edu	37	20	33345399	33345399	+	Silent	SNP	T	T	C			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr20:33345399T>C	ENST00000374796.2	-	8	3722	c.1152A>G	c.(1150-1152)tcA>tcG	p.S384S	NCOA6_ENST00000359003.2_Silent_p.S384S			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	384	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.S384S(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TGTGGGCTTGTGAGGCTTGCT	0.577000													10	99					0	0	0.013537	0	0
CDK7	1022	broad.mit.edu	37	5	68558042	68558042	+	Missense_Mutation	SNP	G	G	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr5:68558042G>A	ENST00000502604.1	+	7	749	c.259G>A	c.(259-261)Gcc>Acc	p.A87T	CDK7_ENST00000514676.1_Missense_Mutation_p.A143T|CDK7_ENST00000513629.1_3'UTR|CDK7_ENST00000256443.3_Missense_Mutation_p.A180T			P50613	CDK7_HUMAN	cyclin-dependent kinase 7	180	Protein kinase.				androgen receptor signaling pathway|cell division|cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex|mitochondrion	androgen receptor binding|ATP binding|cyclin-dependent protein kinase activity|DNA-dependent ATPase activity|protein C-terminus binding|RNA polymerase II carboxy-terminal domain kinase activity|transcription coactivator activity	p.A180T(1)		endometrium(1)|lung(2)	3		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)		GTGGTATCGGGCCCCCGAGTT	0.403000								Nucleotide excision repair (NER)					12	145					0	0	0.013537	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	105010969	105010969	+	Missense_Mutation	SNP	A	A	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chrX:105010969A>T	ENST00000372582.1	+	11	2132	c.1376A>T	c.(1375-1377)gAt>gTt	p.D459V	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.D459V|IL1RAPL2_ENST00000538500.1_Missense_Mutation_p.D64V	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	459	TIR.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	p.D459V(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TACATGGAAGATCTCACAAGA	0.388000													6	47					0	0	0.001168	0	0
TIE1	7075	broad.mit.edu	37	1	43775179	43775179	+	Missense_Mutation	SNP	C	C	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr1:43775179C>T	ENST00000372476.3	+	9	1388	c.1309C>T	c.(1309-1311)Cgg>Tgg	p.R437W	TIE1_ENST00000433781.2_Missense_Mutation_p.R82W	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	437					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.R437W(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCAAGACAGCCGGCGCTTCAA	0.582000													8	33					0	0	0.004482	0	0
VAV3	10451	broad.mit.edu	37	1	108185292	108185292	+	Silent	SNP	G	G	C	rs142820345		TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr1:108185292G>C	ENST00000370056.4	-	20	2137	c.1863C>G	c.(1861-1863)gcC>gcG	p.A621A	VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000527011.1_Silent_p.A621A|VAV3_ENST00000415432.2_Silent_p.A61A|VAV3_ENST00000544443.1_Silent_p.A25A	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	621	SH3 1.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	p.A621A(1)|p.A61A(1)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CGGTATCCCCGGCCTGGAGCT	0.507000													44	71					0	0	0.014410	0	0
KDM2B	84678	broad.mit.edu	37	12	121881874	121881874	+	Missense_Mutation	SNP	C	C	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr12:121881874C>T	ENST00000377069.4	-	16	2705	c.2299G>A	c.(2299-2301)Gtg>Atg	p.V767M	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377071.4_Missense_Mutation_p.V798M|KDM2B_ENST00000542973.1_Missense_Mutation_p.V166M	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	798					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	p.V437M(1)|p.V798M(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CTCAGGTGCACGTCGTCAGAC	0.642000											OREG0022201	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	59					0	0	0.018920	0	0
HSPB9	94086	broad.mit.edu	37	17	40275188	40275188	+	Missense_Mutation	SNP	C	C	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr17:40275188C>T	ENST00000355067.3	+	1	433	c.320C>T	c.(319-321)cCg>cTg	p.P107L	CTD-2132N18.3_ENST00000592574.1_Intron	NM_033194.2	NP_149971.1	Q9BQS6	HSPB9_HUMAN	heat shock protein, alpha-crystallin-related, B9	107					response to stress	cytoplasm|nucleus	protein binding	p.P107L(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	4		all_cancers(22;0.00064)|Breast(137;0.00104)|all_epithelial(22;0.00866)		BRCA - Breast invasive adenocarcinoma(366;0.124)		AAAATGCTCCCGTCCAACCTG	0.632000													14	76					0	0	0.020292	0	0
COL6A3	1293	broad.mit.edu	37	2	238285691	238285691	+	Missense_Mutation	SNP	C	C	A	rs112827048		TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr2:238285691C>A	ENST00000295550.4	-	7	3246	c.2794G>T	c.(2794-2796)Gct>Tct	p.A932S	COL6A3_ENST00000409809.1_Missense_Mutation_p.A726S|COL6A3_ENST00000392003.2_Missense_Mutation_p.A525S|COL6A3_ENST00000392004.3_Missense_Mutation_p.A726S|COL6A3_ENST00000353578.4_Missense_Mutation_p.A726S|COL6A3_ENST00000347401.3_Missense_Mutation_p.A731S|COL6A3_ENST00000346358.4_Missense_Mutation_p.A732S|COL6A3_ENST00000472056.1_Missense_Mutation_p.A325S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	932	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.A932S(1)|p.A726S(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CGGCTGCCAGCAGACTTCACA	0.537000													9	50					0.000274275	0.000291857	0.004482	1	0
CSF3R	1441	broad.mit.edu	37	1	36937240	36937240	+	Missense_Mutation	SNP	G	G	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr1:36937240G>A	ENST00000373103.1	-	10	1626	c.1079C>T	c.(1078-1080)cCc>cTc	p.P360L	CSF3R_ENST00000331941.5_Missense_Mutation_p.P360L|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000361632.4_Missense_Mutation_p.P360L|CSF3R_ENST00000338937.5_Missense_Mutation_p.P360L|CSF3R_ENST00000418048.2_Missense_Mutation_p.P360L|CSF3R_ENST00000440588.2_Missense_Mutation_p.P360L|CSF3R_ENST00000373104.1_Missense_Mutation_p.P360L|CSF3R_ENST00000373106.1_Missense_Mutation_p.P360L	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	360	Fibronectin type-III 3.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity	p.P360L(2)		central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TTCCTCCAGGGGCACTGGCTG	0.582000													7	101					0	0	0.003080	0	0
VPS13A	23230	broad.mit.edu	37	9	79955320	79955320	+	Splice_Site	SNP	G	G	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr9:79955320G>T	ENST00000360280.3	+	50	7140	c.6879_splice	c.e50-1	p.V2294_splice	VPS13A_ENST00000376634.4_Splice_Site_p.V2294_splice|VPS13A_ENST00000376636.3_Splice_Site_p.V2255_splice|VPS13A_ENST00000357409.5_Splice_Site_p.V2294_splice	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2294					Golgi to endosome transport|protein transport	intracellular	protein binding	p.V2294F(3)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTTTTCTTAGGTTGGTGTCAC	0.244000													4	45					4.096e-09	4.99953e-09	0.001168	1	0
ESCO1	114799	broad.mit.edu	37	18	19153993	19153993	+	Missense_Mutation	SNP	T	T	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr18:19153993T>A	ENST00000269214.5	-	4	1749	c.812A>T	c.(811-813)aAt>aTt	p.N271I		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	271					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TGTGTTAGTATTCACTTGTGT	0.428000													14	185					0	0	0.020292	0	0
CDH22	64405	broad.mit.edu	37	20	44839056	44839056	+	Silent	SNP	G	G	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr20:44839056G>A	ENST00000372262.3	-	6	1576	c.1176C>T	c.(1174-1176)ccC>ccT	p.P392P	CDH22_ENST00000537909.1_Silent_p.P392P|CDH22_ENST00000474438.1_5'UTR	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	392	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P392P(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GCCGGAACTCGGGGGGCTCGT	0.741000													5	3					0	0	0.014758	0	0
CREM	1390	broad.mit.edu	37	10	35495854	35495854	+	Silent	SNP	C	C	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr10:35495854C>T	ENST00000333809.8	+	7	831	c.777C>T	c.(775-777)atC>atT	p.I259I	CREM_ENST00000463960.1_Silent_p.I104I|CREM_ENST00000463314.1_Silent_p.I48I|CREM_ENST00000488741.1_Silent_p.I13I|CREM_ENST00000374728.3_Silent_p.I131I|CREM_ENST00000488328.1_Silent_p.I19I|CREM_ENST00000460270.1_Silent_p.I6I|CREM_ENST00000487763.1_Silent_p.I31I|CREM_ENST00000474931.1_Silent_p.I23I|CREM_ENST00000439705.1_Silent_p.I196I|CREM_ENST00000429130.3_Silent_p.I255I|CREM_ENST00000474362.1_Silent_p.I6I|CREM_ENST00000395895.2_Silent_p.I271I|CREM_ENST00000395887.3_Silent_p.I192I|CREM_ENST00000479070.1_Silent_p.I222I|CREM_ENST00000374734.3_Silent_p.I147I|CREM_ENST00000490511.1_Silent_p.I23I|CREM_ENST00000361599.4_Silent_p.I180I|CREM_ENST00000468236.1_Silent_p.I35I|CREM_ENST00000348787.2_Silent_p.I131I|CREM_ENST00000345491.3_Silent_p.I210I|CREM_ENST00000344351.5_Silent_p.I6I|CREM_ENST00000342105.3_Silent_p.I155I|CREM_ENST00000337656.4_Silent_p.I210I|CREM_ENST00000374721.3_Silent_p.I180I|CREM_ENST00000473940.1_Silent_p.I31I|CREM_ENST00000484283.1_Silent_p.I129I|CREM_ENST00000354759.3_Silent_p.I159I|CREM_ENST00000356917.5_Silent_p.I19I	NM_183011.1	NP_898829.1	Q03060	CREM_HUMAN	cAMP responsive element modulator	271					cell differentiation|multicellular organismal development|signal transduction|spermatogenesis	nucleus	cAMP response element binding protein binding|protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.I23I(1)|p.I192I(1)|p.I210I(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						CTTACCAGATCCGAGCTCCTA	0.458000													15	286					0	0	0.004007	0	0
SPAG17	200162	broad.mit.edu	37	1	118584635	118584635	+	Missense_Mutation	SNP	C	C	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr1:118584635C>T	ENST00000336338.5	-	21	2910	c.2845G>A	c.(2845-2847)Gaa>Aaa	p.E949K		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	949						cilium|flagellar axoneme|microtubule		p.E949K(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CGCTCCTCTTCTGCTAATCGA	0.378000													14	199					0	0	0.016723	0	0
ENG	2022	broad.mit.edu	37	9	130588861	130588861	+	Missense_Mutation	SNP	C	C	G			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr9:130588861C>G	ENST00000344849.3	-	4	731	c.451G>C	c.(451-453)Gct>Cct	p.A151P	ENG_ENST00000373203.4_Missense_Mutation_p.A151P			P17813	EGLN_HUMAN	endoglin	151					artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding	p.A151P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						CCCCTCTCAGCTGCCCACTCA	0.622000									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia				4	43					0	0	0.014758	0	0
GRIK3	2899	broad.mit.edu	37	1	37271784	37271784	+	Silent	SNP	G	G	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr1:37271784G>A	ENST00000373091.3	-	14	2251	c.2235C>T	c.(2233-2235)taC>taT	p.Y745Y	GRIK3_ENST00000373093.4_Silent_p.Y745Y	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	745					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	p.Y745Y(2)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	TCTGCGTGACGTACTCGATGG	0.642000													10	81					0	0	0.013537	0	0
LAMA3	3909	broad.mit.edu	37	18	21404467	21404467	+	Missense_Mutation	SNP	G	G	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr18:21404467G>A	ENST00000313654.9	+	21	2750	c.2509G>A	c.(2509-2511)Gac>Aac	p.D837N	LAMA3_ENST00000399516.3_Missense_Mutation_p.D837N	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	837	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.D837N(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGTTTTGCAGACCCATTTTC	0.458000													13	74					0	0	0.013537	0	0
OR2T6	254879	broad.mit.edu	37	1	248551128	248551128	+	Nonsense_Mutation	SNP	C	C	A	rs61736241	byFrequency	TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr1:248551128C>A	ENST00000355728.2	+	1	219	c.219C>A	c.(217-219)taC>taA	p.Y73*		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y73*(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACACATTATACATCTCCACCA	0.498000													14	56					7.93312e-07	8.89796e-07	0.020292	1	0
ANO2	57101	broad.mit.edu	37	12	5685180	5685180	+	Splice_Site	SNP	G	G	C			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr12:5685180G>C	ENST00000356134.5	-	25	2515	c.2442_splice	c.e25-1	p.A815_splice	ANO2_ENST00000546188.1_Splice_Site_p.A815_splice|ANO2_ENST00000327087.8_Splice_Site_p.A814_splice	NM_001278596.1|NM_001278597.1	NP_001265525.1|NP_001265526.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	819						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	p.A815G(1)|p.A814G(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						AATGACAAAAGCCTGAGGGAC	0.517000													2	7					0	0	0.004672	0	0
GRIK3	2899	broad.mit.edu	37	1	37324731	37324731	+	Missense_Mutation	SNP	C	C	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr1:37324731C>T	ENST00000373091.3	-	7	1098	c.1082G>A	c.(1081-1083)cGc>cAc	p.R361H	GRIK3_ENST00000462621.1_5'UTR|GRIK3_ENST00000373093.4_Missense_Mutation_p.R361H	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	361					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	p.R361H(2)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GTTCATGAAGCGGCCGCCAAA	0.627000													17	58					0	0	0.006122	0	0
PRKDC	5591	broad.mit.edu	37	8	48689545	48689545	+	Splice_Site	SNP	C	C	G			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr8:48689545C>G	ENST00000314191.2	-	86	12096		c.e86-1		PRKDC_ENST00000523565.1_Splice_Site|PRKDC_ENST00000338368.3_Splice_Site	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide						cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	p.?(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GTTCAAAATTCTAGAAGAAAA	0.328000								Non-homologous end-joining					26	65					0	0	0.013726	0	0
TPO	7173	broad.mit.edu	37	2	1499824	1499824	+	Silent	SNP	C	C	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr2:1499824C>A	ENST00000345913.4	+	12	2161	c.2070C>A	c.(2068-2070)tcC>tcA	p.S690S	TPO_ENST00000382198.1_Silent_p.S517S|TPO_ENST00000382201.3_Silent_p.S633S|TPO_ENST00000349624.3_Silent_p.S517S|TPO_ENST00000346956.3_Silent_p.S690S|TPO_ENST00000337415.3_Silent_p.S690S|TPO_ENST00000329066.4_Silent_p.S690S|TPO_ENST00000497517.2_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	690					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.S690S(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	AGAAGCACTCCCTGTCTCGGG	0.552000													5	25					2.7689e-08	3.3307e-08	0.001984	1	0
ZNF549	256051	broad.mit.edu	37	19	58048682	58048682	+	Missense_Mutation	SNP	C	C	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr19:58048682C>T	ENST00000376233.3	+	4	491	c.310C>T	c.(310-312)Cat>Tat	p.H104Y	ZNF549_ENST00000240719.3_Missense_Mutation_p.H91Y|ZNF549_ENST00000594943.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000602149.1_Intron	NM_001199295.1	NP_001186224.1	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	104	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H91Y(1)|p.H104Y(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCCAAATGCTCATTCTTGTGA	0.512000													38	50					0	0	0.006230	0	0
TMEM167B	56900	broad.mit.edu	37	1	109635561	109635561	+	Silent	SNP	C	C	G			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr1:109635561C>G	ENST00000338272.7	+	2	198	c.60C>G	c.(58-60)acC>acG	p.T20T	TMEM167B_ENST00000473828.1_3'UTR	NM_020141.3	NP_064526.1	Q9NRX6	KISHB_HUMAN	transmembrane protein 167B	20						Golgi membrane|integral to membrane		p.T20T(1)		endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)	7						TTGTTTGCACCTGTGCCTACT	0.448000													87	356					0	0	0.014410	0	0
TCTE1	202500	broad.mit.edu	37	6	44250096	44250096	+	Silent	SNP	G	G	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr6:44250096G>A	ENST00000371505.4	-	4	1169	c.1047C>T	c.(1045-1047)ccC>ccT	p.P349P	TCTE1_ENST00000371504.1_Intron|TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371503.3_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	349								p.P349P(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACTGGGCACCGGGTGCACGCA	0.602000													7	119					0	0	0.006214	0	0
TPR	7175	broad.mit.edu	37	1	186322931	186322931	+	Silent	SNP	T	T	G			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr1:186322931T>G	ENST00000367478.3	-	18	2519	c.2223A>C	c.(2221-2223)tcA>tcC	p.S741S	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	741					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	p.S742S(1)|p.S741S(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TCTCATGAAGTGATGTTATTT	0.353000			T	NTRK1	papillary thyroid								6	90					0	0	0.001168	0	0
FSTL5	56884	broad.mit.edu	37	4	162307279	162307279	+	Missense_Mutation	SNP	T	T	C			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr4:162307279T>C	ENST00000306100.5	-	16	2600	c.2164A>G	c.(2164-2166)Acc>Gcc	p.T722A	FSTL5_ENST00000379164.4_Missense_Mutation_p.T721A|FSTL5_ENST00000536695.1_Missense_Mutation_p.T721A|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000427802.2_Missense_Mutation_p.T712A	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	722						extracellular region	calcium ion binding	p.T722A(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CCTCTGATGGTAATGTACTGA	0.413000													18	44					0	0	0.004990	0	0
LAMA3	3909	broad.mit.edu	37	18	21402295	21402295	+	Missense_Mutation	SNP	G	G	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr18:21402295G>A	ENST00000313654.9	+	20	2625	c.2384G>A	c.(2383-2385)gGa>gAa	p.G795E	LAMA3_ENST00000399516.3_Missense_Mutation_p.G795E	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	795					cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.G795E(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTTAACCCTGGAACTGAAGCA	0.378000													9	85					0	0	0.006214	0	0
LAMA3	3909	broad.mit.edu	37	18	21399897	21399897	+	Missense_Mutation	SNP	G	G	C			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr18:21399897G>C	ENST00000313654.9	+	19	2481	c.2240G>C	c.(2239-2241)gGa>gCa	p.G747A	LAMA3_ENST00000399516.3_Missense_Mutation_p.G747A	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	747					cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.G747A(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTTCGATTTGGATTTGATCCG	0.458000													8	61					0	0	0.004482	0	0
UGT2B17	7367	broad.mit.edu	37	4	69433758	69433758	+	Missense_Mutation	SNP	G	G	A	rs146354188		TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr4:69433758G>A	ENST00000317746.2	-	1	487	c.445C>T	c.(445-447)Ctt>Ttt	p.L149F		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	149					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.L149F(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						TCTGCCAGAAGGACATCAAAT	0.408000													23	163					0	0	0.016522	0	0
MYO18B	84700	broad.mit.edu	37	22	26423044	26423044	+	Silent	SNP	G	G	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr22:26423044G>T	ENST00000335473.7	+	43	7354	c.7104G>T	c.(7102-7104)ccG>ccT	p.P2368P	MYO18B_ENST00000407587.2_Silent_p.P2369P|MYO18B_ENST00000536101.1_Silent_p.P2368P	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2368						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	p.P2369P(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TGAGCTCTCCGACCACACCCA	0.587000													10	79					2.17888e-05	2.41129e-05	0.006214	1	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803646	142803646	+	RNA	SNP	G	G	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr1:142803646G>A	ENST00000423385.1	-	0	1319																											gttgtattctgggctagacat	0.299000													6	24					0	0	0.001168	0	0
USP24	23358	broad.mit.edu	37	1	55604671	55604671	+	Silent	SNP	A	A	T			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr1:55604671A>T	ENST00000294383.6	-	25	2762	c.2763T>A	c.(2761-2763)ctT>ctA	p.L921L	USP24_ENST00000407756.1_Silent_p.L761L	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	921					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.L921L(1)|p.L838L(1)		breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						CAATTATTACAAGTTTAGTAG	0.343000													9	25					0	0	0.008291	0	0
SFRP4	6424	broad.mit.edu	37	7	37953843	37953843	+	Silent	SNP	T	T	A			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr7:37953843T>A	ENST00000436072.2	-	3	941	c.564A>T	c.(562-564)gcA>gcT	p.A188A	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	188	NTR.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.A188A(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TGAGATACGTTGCCAAAGTTG	0.408000													10	149					0	0	0.010729	0	0
ARAP3	64411	broad.mit.edu	37	5	141049581	141049581	+	Silent	SNP	T	T	C			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr5:141049581T>C	ENST00000239440.4	-	15	2222	c.2157A>G	c.(2155-2157)gcA>gcG	p.A719A	ARAP3_ENST00000508305.1_Silent_p.A621A|ARAP3_ENST00000513878.1_Silent_p.A381A	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	719					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	p.A719A(1)		NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TGTTTTCCGATGCAAACATTT	0.587000													7	35					0	0	0.003080	0	0
KCNS3	3790	broad.mit.edu	37	2	18113204	18113208	+	Frame_Shift_Del	DEL	TTCGG	TTCGG	-			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr2:18113204_18113208delTTCGG	ENST00000403915.1	+	3	1380_1384	c.929_933delTTCGG	c.(928-933)cfs	p.LR310fs	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Frame_Shift_Del_p.LR310fs			Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	310					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCGGTAGGACTTCGGTCTCTAGGTG	0.498													30	101	---	---	---	---					
EGFR	1956	broad.mit.edu	37	7	55242465	55242479	+	In_Frame_Del	DEL	GGAATTAAGAGAAGC	GGAATTAAGAGAAGC	-	rs121913438		TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr7:55242465_55242479delGGAATTAAGAGAAGC	ENST00000275493.2	+	19	2412_2426	c.2235_2249delGGAATTAAGAGAAGC	c.(2233-2250)aaa>aa	p.KELREA745del	EGFR_ENST00000455089.1_In_Frame_Del_p.KELREA700del|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_In_Frame_Del_p.KELREA692del	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	745	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.E746_A750del(1007)|p.L747_P753>S(123)|p.L747_A750>P(82)|p.L747_T751del(76)|p.E746_S752>V(57)|p.L747_S752del(34)|p.L747_T751>P(21)|p.E746_T751>A(21)|p.L747_E749del(16)|p.E746_E749del(9)|p.L747_T751>S(7)|p.L747_P753>Q(7)|p.K745_E749del(6)|p.E746_T751>V(6)|p.L747S(6)|p.E746_S752>A(6)|p.E746_T751>VA(6)|p.K745_E746insIPVAIK(5)|p.L747_T751>Q(5)|p.E746_T751del(4)|p.E746_T751>I(4)|p.E746_S752>D(4)|p.E746_S752>I(4)|p.K745_E746insVPVAIK(4)|p.E746_A750>IP(3)|p.L747P(3)|p.L747_S752>Q(3)|p.E746K(3)|p.E746_T751>IP(3)|p.E746_T751>VP(3)|p.E746_A750>RP(2)|p.L747_S752>QH(2)|p.E746_S752del(2)|p.A750_E758>P(2)|p.E746_P753>VS(2)|p.E746_A750>QP(2)|p.L747_K754del(2)|p.L747_K754>ST(1)|p.E746_A750>VP(1)|p.A750_K754del(1)|p.L747_P753del(1)|p.E746del(1)|p.L747_K754>N(1)|p.E746_P753>IS(1)|p.E746_T751>L(1)|p.L747_R748>FP(1)|p.E749G(1)|p.L747_T751>A(1)|p.I744_E749>LKR(1)|p.E746_P753>LS(1)|p.E746_T751>Q(1)|p.E746_T751>S(1)|p.E746_P753>VQ(1)|p.E746_A750>DP(1)|p.A750_E758del(1)|p.E746V(1)|p.I744_A750>VK(1)|p.R748I(1)|p.K745_E746insTPVAIK(1)|p.K745_A750del(1)|p.R748K(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TCGCTATCAAGGAATTAAGAGAAGCAACATCTCCG	0.479	E746K(HCC827_LUNG)|E746_A750del(NCIH1650_LUNG)|E746_A750del(PC14_LUNG)|L747_P753>Q(HCC4006_LUNG)	8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			55	85	---	---	---	---					
SLC16A7	9194	broad.mit.edu	37	12	60168962	60168962	+	Frame_Shift_Del	DEL	G	G	-			TCGA-38-6178-01A-11D-1753-08	TCGA-38-6178-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fa467f1-d928-4d81-bd0b-68d67a5c18cf	c32e427c-25d8-473c-a112-d7e54a5536db	g.chr12:60168962delG	ENST00000261187.4	+	4	1050	c.886delG	c.(886-888)ctfs	p.A296fs	SLC16A7_ENST00000552024.1_Frame_Shift_Del_p.A296fs|SLC16A7_ENST00000543448.1_Frame_Shift_Del_p.A197fs|SLC16A7_ENST00000552432.1_Frame_Shift_Del_p.A296fs|SLC16A7_ENST00000547379.1_Frame_Shift_Del_p.A296fs	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	296						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	TGATATGTTTGCTAGGCCTTC	0.403													10	86	---	---	---	---					
