Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ATP5EP2	432369	broad.mit.edu	37	13	28519580	28519580	+	RNA	SNP	G	A	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr13:28519580G>A	uc001uru.3	+	0		c.238G>A								Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit pseudogene 2 (ATP5EP2), transcript variant 6, non-coding RNA.											ovary(1)	1						TTGAAATGCTGCATTTCCAAG	0.358000														26			6		0	0	0.217242	0	0
FNBP1	23048	broad.mit.edu	37	9	132662705	132662705	+	Splice_Site	SNP	C	T	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr9:132662705C>T	uc004byw.1	-	14	1769	c.1550_splice	c.e14+1	p.S517_splice	FNBP1_uc011mbv.1_Splice_Site_p.S507_splice|FNBP1_uc011mbw.1_Splice_Site_p.S512_splice|FNBP1_uc004bza.2_Splice_Site_p.S451_splice|FNBP1_uc004byz.1_Splice_Site_p.S488_splice|FNBP1_uc011mbu.1_Splice_Site_p.S145_splice|FNBP1_uc004byx.1_Splice_Site_p.S433_splice|FNBP1_uc004byy.1_Splice_Site_p.S423_splice	NM_015033	NP_055848	Q96RU3	FNBP1_HUMAN	Homo sapiens formin binding protein 1 (FNBP1), mRNA.	517	Interaction with PDE6G (By similarity).|Interaction with RND2 (By similarity).|Required for interaction with TNKS.|Required for self-association and induction of membrane tubulation.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		GATACTGTACCTCTCACGGTC	0.572000			T	MLL	AML									73			9		0	0	0.307466	0	0
SLC3A2	6520	broad.mit.edu	37	11	62648627	62648627	+	Missense_Mutation	SNP	G	C	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr11:62648627G>C	uc001nwd.3	+	3	693	c.435G>C	c.(433-435)aaG>aaC	p.K145N	SLC3A2_uc001nwc.3_Missense_Mutation_p.K146N|SLC3A2_uc001nwf.3_Missense_Mutation_p.K83N|SLC3A2_uc001nwg.3_Missense_Mutation_p.K44N|SLC3A2_uc010rml.1_5'Flank	NM_002394	NP_001013269	P08195	4F2_HUMAN	Homo sapiens solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2 (SLC3A2), transcript variant 3, mRNA.	145					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						GTCTGGTGAAGATCAAGGTGG	0.657000											OREG0021031	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		44			8		0	0	0.278610	0	0
TSNARE1	203062	broad.mit.edu	37	8	143427196	143427196	+	Missense_Mutation	SNP	T	G	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:143427196T>G	uc003ywj.3	-	1	185	c.146A>C	c.(145-147)gAg>gCg	p.E49A	TSNARE1_uc011lju.2_Missense_Mutation_p.E49A|TSNARE1_uc003ywk.3_Missense_Mutation_p.E49A|TSNARE1_uc003ywl.4_Intron	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	Homo sapiens t-SNARE domain containing 1 (TSNARE1), mRNA.	49					vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CAGCTTGCTCTCTGGCGACGG	0.597000														329			22		0	0	0.654019	0	0
MCM3	4172	broad.mit.edu	37	6	52146932	52146932	+	Missense_Mutation	SNP	A	G	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr6:52146932A>G	uc003pan.1	-	3	552	c.442T>C	c.(442-444)Tgt>Cgt	p.C148R	MCM3_uc011dwu.1_Missense_Mutation_p.C102R	NM_002388	NP_002379	P25205	MCM3_HUMAN	Homo sapiens minichromosome maintenance complex component 3 (MCM3), mRNA.	148					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex|alpha DNA polymerase:primase complex|centrosome|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					GTAGCAGGACAGTAGTGGACA	0.488000														465			69		0	0	0.870114	0	0
CLCN2	1181	broad.mit.edu	37	3	184079221	184079221	+	Missense_Mutation	SNP	T	G	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr3:184079221T>G	uc003foi.3	-	0	171	c.47A>C	c.(46-48)cAg>cCg	p.Q16P	CLCN2_uc010hya.2_Missense_Mutation_p.Q16P|CLCN2_uc011brl.2_Missense_Mutation_p.Q16P|CLCN2_uc011brm.2_Missense_Mutation_p.Q16P|CLCN2_uc011brn.1_Missense_Mutation_p.Q16P|POLR2H_uc003fok.2_5'Flank	NM_004366	NP_004357	P51788	CLCN2_HUMAN	Homo sapiens chloride channel 2 (CLCN2), transcript variant 1, mRNA.	16						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	CTGCTCGTACTGCAGCGCCCG	0.706000														298			44		0	0	0.864702	0	0
MAP3K10	4294	broad.mit.edu	37	19	40711993	40711993	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:40711993G>A	uc002ona.3	+	4	1652	c.1364G>A	c.(1363-1365)cGc>cAc	p.R455H		NM_002446	NP_002437	Q02779	M3K10_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 10 (MAP3K10), mRNA.	455	Arg/Lys-rich (basic).				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|JUN kinase kinase kinase activity|bHLH transcription factor binding|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GTCCGCAAGCGCAAGGGCAAC	0.672000														128			31		0	0	0.717897	0	0
ARID2	196528	broad.mit.edu	37	12	46245520	46245520	+	Missense_Mutation	SNP	G	C	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr12:46245520G>C	uc001ros.1	+	14	3614	c.3614G>C	c.(3613-3615)gGa>gCa	p.G1205A	ARID2_uc001ror.3_Missense_Mutation_p.G1205A|ARID2_uc009zkg.1_Missense_Mutation_p.G661A|ARID2_uc009zkh.1_Missense_Mutation_p.G832A|ARID2_uc001rou.1_Missense_Mutation_p.G539A	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	1205					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.S1204S(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ACCATGAGCGGAACGCAGACA	0.483000			"""N, S, F"""		hepatocellular carcinoma									249			50		0	0	0.870114	0	0
SLC17A9	63910	broad.mit.edu	37	20	61591929	61591929	+	Silent	SNP	C	T	T	rs144534537	by1000genomes	TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr20:61591929C>T	uc002yea.4	+	3	655	c.471C>T	c.(469-471)agC>agT	p.S157S	SLC17A9_uc002ydz.4_Silent_p.S151S|SLC17A9_uc011aap.1_Silent_p.S177S	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN	Homo sapiens solute carrier family 17, member 9 (SLC17A9), mRNA.	157					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						TCACCTACAGCATCGTGGGCG	0.652000														157			17		0	0	0.592651	0	0
TAOK1	57551	broad.mit.edu	37	17	27857472	27857472	+	Silent	SNP	C	T	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:27857472C>T	uc002hdz.2	+	17	2390	c.2196C>T	c.(2194-2196)atC>atT	p.I732I	TAOK1_uc010wbe.2_Silent_p.I584I	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	Homo sapiens TAO kinase 1 (TAOK1), transcript variant 1, mRNA.	732					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			CCTGCAAAATCCAAACCAGAC	0.393000														198			27		0	0	0.681144	0	0
LARS2	23395	broad.mit.edu	37	3	45533136	45533136	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr3:45533136G>A	uc003cop.1	+	12	1552	c.1367G>A	c.(1366-1368)gGc>gAc	p.G456D	LARS2_uc010hit.1_Missense_Mutation_p.G413D	NM_015340	NP_056155	Q15031	SYLM_HUMAN	Homo sapiens leucyl-tRNA synthetase 2, mitochondrial (LARS2), nuclear gene encoding mitochondrial protein, mRNA.	456					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	CGGTACTGGGGCACACCAATC	0.582000														298			65		0	0	0.870114	0	0
METTL11A	28989	broad.mit.edu	37	9	132395107	132395107	+	Missense_Mutation	SNP	T	A	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr9:132395107T>A	uc004byd.1	+	1	319	c.125T>A	c.(124-126)aTc>aAc	p.I42N	METTL11A_uc011mbs.1_Missense_Mutation_p.I42N|METTL11A_uc010myw.1_Intron	NM_014064	NP_054783	Q9BV86	NTM1A_HUMAN	Homo sapiens methyltransferase like 11A (METTL11A), mRNA.	42					N-terminal peptidyl-proline dimethylation|N-terminal peptidyl-serine dimethylation|N-terminal peptidyl-serine trimethylation|chromosome segregation|spindle organization	nucleus	protein binding|protein methyltransferase activity	p.I42V(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	7						AGCATCGACATCAACAGCTCC	0.567000														569			108		0	0	0.870114	0	0
MAP2K6	5608	broad.mit.edu	37	17	67522730	67522730	+	Missense_Mutation	SNP	G	T	T	rs146595343	byFrequency	TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:67522730G>T	uc002jij.3	+	9	1049	c.761G>T	c.(760-762)cGa>cTa	p.R254L		NM_002758	NP_002749	P52564	MP2K6_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 6 (MAP2K6), mRNA.	254	Protein kinase.				DNA damage induced protein phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|cell cycle arrest|innate immune response|muscle cell differentiation|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R254L(2)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					GCCATCCTTCGATTTCCCTAT	0.463000														467			62		5.45122e-27	6.04283e-27	0.870114	1	0
ZNF615	284370	broad.mit.edu	37	19	52497760	52497760	+	Missense_Mutation	SNP	T	C	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:52497760T>C	uc002pyf.2	-	6	919	c.602A>G	c.(601-603)cAg>cGg	p.Q201R	AK128361_uc021uys.1_5'Flank|ZNF615_uc002pye.2_Missense_Mutation_p.Q190R|ZNF615_uc002pyh.2_Missense_Mutation_p.Q201R|ZNF615_uc010epi.2_Missense_Mutation_p.Q197R|ZNF615_uc002pyg.2_Missense_Mutation_p.Q82R|ZNF615_uc010ydg.2_Missense_Mutation_p.Q195R	NM_001199324	NP_001186253	Q8N8J6	ZN615_HUMAN	Homo sapiens zinc finger protein 615 (ZNF615), transcript variant 1, mRNA.	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CTTAATGAACTGGGACTTATT	0.363000														809			111		0	0	0.870114	0	0
KLHL11	55175	broad.mit.edu	37	17	40010103	40010103	+	Silent	SNP	G	A	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:40010103G>A	uc002hyf.1	-	1	2022	c.2016C>T	c.(2014-2016)taC>taT	p.Y672Y		NM_018143	NP_060613	Q9NVR0	KLH11_HUMAN	Homo sapiens kelch-like 11 (Drosophila) (KLHL11), mRNA.	672						extracellular region				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				GAGGCATAGGGTATCTCTGTG	0.527000														574			97		0	0	0.870114	0	0
CD248	57124	broad.mit.edu	37	11	66084240	66084240	+	Missense_Mutation	SNP	G	T	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr11:66084240G>T	uc001ohm.1	-	0	276	c.259C>A	c.(259-261)Ctg>Atg	p.L87M		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	Homo sapiens CD248 molecule, endosialin (CD248), mRNA.	87	C-type lectin.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding	p.L87M(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	TGCCGCTGCAGCCCGATCCAC	0.731000														111			13		1.99824e-07	2.06316e-07	0.520397	1	0
TDG	6996	broad.mit.edu	37	12	104373759	104373759	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr12:104373759G>A	uc001tkg.3	+	2	540	c.317G>A	c.(316-318)aGa>aAa	p.R106K	TDG_uc010swh.1_Missense_Mutation_p.R106K|TDG_uc009zuk.3_Missense_Mutation_p.R102K|TDG_uc010swi.2_5'UTR|TDG_uc010swj.2_5'UTR	NM_003211	NP_003202	Q13569	TDG_HUMAN	Homo sapiens thymine-DNA glycosylase (TDG), mRNA.	106					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		AAAGTAAAAAGAAAAGTAGAC	0.353000								Base excision repair (BER), DNA glycosylases						294			29		0	0	0.717897	0	0
CRB1	23418	broad.mit.edu	37	1	197404147	197404147	+	Missense_Mutation	SNP	C	G	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:197404147C>G	uc001gtz.3	+	8	3363	c.3154C>G	c.(3154-3156)Caa>Gaa	p.Q1052E	CRB1_uc010poz.2_Missense_Mutation_p.Q1028E|CRB1_uc009wza.3_Missense_Mutation_p.Q940E|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppd.2_Missense_Mutation_p.Q533E|CRB1_uc001gub.1_Missense_Mutation_p.Q701E	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	1052	Laminin G-like 3.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CTCCAGGTGGCAAATGGAAGT	0.453000														492			22		0	0	0.639603	0	0
MESDC1	59274	broad.mit.edu	37	15	81295381	81295381	+	Missense_Mutation	SNP	G	T	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr15:81295381G>T	uc002bfz.3	+	0	2087	c.769G>T	c.(769-771)Gca>Tca	p.A257S		NM_022566	NP_072088	Q9H1K6	MESD1_HUMAN	Homo sapiens mesoderm development candidate 1 (MESDC1), mRNA.	257										endometrium(1)|lung(2)	3						CCTGGTGCAGGCAGTGAGCGC	0.736000														40			4		0.00909568	0.00912759	0.150653	1	0
GLI3	2737	broad.mit.edu	37	7	42012195	42012195	+	Missense_Mutation	SNP	G	C	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr7:42012195G>C	uc011kbh.2	-	12	1935	c.1844C>G	c.(1843-1845)aCt>aGt	p.T615S	GLI3_uc011kbg.2_Missense_Mutation_p.T556S	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	615					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GTAACGCTTAGTGCAGCCTGG	0.507000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly					226			40		0	0	0.840704	0	0
ZNF556	80032	broad.mit.edu	37	19	2877458	2877458	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:2877458G>A	uc002lwp.1	+	3	589	c.502G>A	c.(502-504)Gct>Act	p.A168T	ZNF556_uc002lwq.3_Missense_Mutation_p.A167T	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	Homo sapiens zinc finger protein 556 (ZNF556), mRNA.	168					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACAAAAGAGCTCACTCTGG	0.438000														440			87		0	0	0.870114	0	0
PRR22	163154	broad.mit.edu	37	19	5783339	5783339	+	Missense_Mutation	SNP	A	T	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:5783339A>T	uc010xiv.1	-	2	1024	c.919T>A	c.(919-921)Tgc>Agc	p.C307S	PRR22_uc002mdb.1_Missense_Mutation_p.C305S	NM_001134316	NP_001127788	Q8IZ63	PRR22_HUMAN	Homo sapiens proline rich 22 (PRR22), mRNA.	305										endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						GGGACCTCGCACAGGGTACCC	0.642000														290			39		0	0	0.812448	0	0
TAMM41	132001	broad.mit.edu	37	3	11851103	11851103	+	Silent	SNP	G	C	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr3:11851103G>C	uc011auo.1	-	5	1004	c.762C>G	c.(760-762)acC>acG	p.T254T	TAMM41_uc003bwh.3_Silent_p.T254T|TAMM41_uc003bwi.3_Non-coding_Transcript	NM_138807	NP_620162	Q96BW9	MMP37_HUMAN	Homo sapiens TAM41, mitochondrial translocator assembly and maintenance protein, homolog (S. cerevisiae) (TAMM41), nuclear gene encoding mitochondrial protein, mRNA.	254					protein import into mitochondrial matrix	extrinsic to mitochondrial inner membrane											GTTGCTGTAAGGTTTTGGGCA	0.418000														457			39		0	0	0.819951	0	0
PIGO	84720	broad.mit.edu	37	9	35095294	35095294	+	Missense_Mutation	SNP	A	T	T	rs148704151		TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr9:35095294A>T	uc003zwd.3	-	1	665	c.269T>A	c.(268-270)gTg>gAg	p.V90E	PIGO_uc003zwe.3_Missense_Mutation_p.V90E|PIGO_uc003zwf.3_Missense_Mutation_p.V90E|PIGO_uc003zwc.1_Missense_Mutation_p.V90E|PIGO_uc003zwg.2_5'UTR	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA.	90					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CTCTCTAGGCACGTGTGAATG	0.577000														717			48		0	0	0.870114	0	0
RPSA	3921	broad.mit.edu	37	19	24010155	24010155	+	Silent	SNP	T	A	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:24010155T>A	uc002nrn.3	+	3	615	c.192T>A	c.(190-192)gcT>gcA	p.A64A		NM_002295	NP_002286	P08865	RSSA_HUMAN	Homo sapiens ribosomal protein SA (RPSA), transcript variant 1, mRNA.	64	Interaction with PPP1R16B.				cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|rRNA export from nucleus|ribosomal small subunit assembly|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		CAGCTCGTGCTATTGTTGCCA	0.473000														195			9		0	0	0.479597	0	0
KRT39	390792	broad.mit.edu	37	17	39114945	39114945	+	Missense_Mutation	SNP	A	G	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:39114945A>G	uc002hvo.1	-	6	1420	c.1384T>C	c.(1384-1386)Tgc>Cgc	p.C462R	KRT39_uc010wfm.1_Missense_Mutation_p.C195R	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	Homo sapiens keratin 39 (KRT39), mRNA.	462	Tail.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				GTGATGGTGCAAATTTTAACC	0.507000														513			16		0	0	0.520397	0	0
MLL	4297	broad.mit.edu	37	11	118375783	118375783	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr11:118375783C>T	uc001pta.3	+	26	9190	c.9167C>T	c.(9166-9168)cCg>cTg	p.P3056L	MLL_uc001ptb.3_Missense_Mutation_p.P3059L	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	3056					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		AGTCCTGGCCCGTCTCAGATT	0.507000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									753			30		0	0	0.717897	0	0
WDR45	11152	broad.mit.edu	37	X	48932560	48932560	+	Missense_Mutation	SNP	C	G	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrX:48932560C>G	uc004dml.1	-	10	1160	c.988G>C	c.(988-990)Gat>Cat	p.D330H	WDR45_uc004dmi.3_5'Flank|WDR45_uc011mmt.2_Intron|WDR45_uc004dmj.1_Missense_Mutation_p.D290H|WDR45_uc004dmk.1_Missense_Mutation_p.D329H|WDR45_uc004dmn.1_Missense_Mutation_p.D220H|WDR45_uc004dmp.1_Missense_Mutation_p.D330H	NM_007075	NP_009006	Q9Y484	WIPI4_HUMAN	Homo sapiens WD repeat domain 45 (WDR45), transcript variant 1, mRNA.	329					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						AAGGTCCCATCTACGCAGATG	0.537000														278			18		0	0	0.557998	0	0
DYRK3	8444	broad.mit.edu	37	1	206822032	206822032	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:206822032G>A	uc001hej.3	+	2	1657	c.1489G>A	c.(1489-1491)Gag>Aag	p.E497K	DYRK3_uc001hek.3_Intron|DYRK3_uc001hei.3_Missense_Mutation_p.E477K	NM_003582	NP_003573	O43781	DYRK3_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3 (DYRK3), transcript variant 1, mRNA.	497	Protein kinase.				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			CTTGTTTATAGAGTTCTTGAA	0.547000														575			19		0	0	0.557998	0	0
KCNH7	90134	broad.mit.edu	37	2	163228571	163228571	+	Missense_Mutation	SNP	A	G	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr2:163228571A>G	uc002uch.2	-	15	3588	c.3359T>C	c.(3358-3360)cTt>cCt	p.L1120P		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	1120					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TTTGGATTTAAGTTTAGATTT	0.333000														164			6		0	0	0.278610	0	0
CC2D2A	57545	broad.mit.edu	37	4	15572024	15572024	+	Missense_Mutation	SNP	G	T	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr4:15572024G>T	uc010idv.2	+	28	3744	c.3499G>T	c.(3499-3501)Gac>Tac	p.D1167Y	CC2D2A_uc003gnx.3_Missense_Mutation_p.D1118Y|CC2D2A_uc003gnz.1_Non-coding_Transcript|CC2D2A_uc003goa.1_Non-coding_Transcript	NM_001080522	NP_001073991	Q9P2K1	C2D2A_HUMAN	Homo sapiens coiled-coil and C2 domain containing 2A (CC2D2A), transcript variant 1, mRNA.	1167	C2.				cell projection organization	cilium|microtubule basal body				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						CCTTTAGGATGACCGTGAAAG	0.408000														42			10		1.58986e-06	1.63562e-06	0.361761	1	0
KIF4B	285643	broad.mit.edu	37	5	154395716	154395716	+	Missense_Mutation	SNP	A	C	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr5:154395716A>C	uc010jih.1	+	0	2457	c.2297A>C	c.(2296-2298)gAc>gCc	p.D766A		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	766	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CATCTGAATGACCTCCTTGAA	0.458000														255			41		0	0	0.864702	0	0
C1QL3	389941	broad.mit.edu	37	10	16562659	16562659	+	Nonsense_Mutation	SNP	G	A	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr10:16562659G>A	uc001ioj.1	-	0	1346	c.406C>T	c.(406-408)Cag>Tag	p.Q136*		NM_001010908	NP_001010908	Q5VWW1	C1QL3_HUMAN	Homo sapiens complement component 1, q subcomponent-like 3 (C1QL3), mRNA.	136	C1q.					collagen				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CCTTCATGCTGCCGCTTGAGG	0.687000														318			12		0	0	0.479597	0	0
FBXW7	55294	broad.mit.edu	37	4	153332931	153332931	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr4:153332931C>T	uc003ims.3	-	1	187	c.25G>A	c.(25-27)Ggc>Agc	p.G9S	FBXW7_uc011cii.2_Missense_Mutation_p.G9S|FBXW7_uc003imt.3_Missense_Mutation_p.G9S|FBXW7_uc003imu.3_Missense_Mutation_p.G9S|FBXW7_uc021xsx.1_Missense_Mutation_p.G9S|FBXW7_uc021xsy.1_Missense_Mutation_p.G9S|FBXW7_uc021xsz.1_Missense_Mutation_p.G9S|FBXW7_uc021xta.1_Missense_Mutation_p.G9S|FBXW7_uc021xtb.1_Missense_Mutation_p.G9S|FBXW7_uc021xtc.1_Missense_Mutation_p.G9S	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA.	9					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of Notch signaling pathway|negative regulation of hepatocyte proliferation|negative regulation of triglyceride biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of epidermal growth factor receptor activity|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|sister chromatid cohesion|vasculature development	SCF ubiquitin ligase complex|nucleolus|nucleoplasm	protein binding			NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CTTTTGCTGCCCACAGAGAGC	0.483000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""									171			37		0	0	0.779181	0	0
SLITRK3	22865	broad.mit.edu	37	3	164908435	164908435	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr3:164908435C>T	uc003fej.4	-	1	628	c.184G>A	c.(184-186)Gac>Aac	p.D62N	SLITRK3_uc003fek.3_Missense_Mutation_p.D62N|SLITRK3_uc021xgy.1_Missense_Mutation_p.D62N	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	62						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCTTTACTGTCACAATGTATA	0.373000										HNSCC(40;0.11)				505			61		0	0	0.870114	0	0
VPS13B	157680	broad.mit.edu	37	8	100155279	100155279	+	Missense_Mutation	SNP	C	G	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:100155279C>G	uc003yiv.3	+	12	1840	c.1729C>G	c.(1729-1731)Ctt>Gtt	p.L577V	VPS13B_uc003yiw.3_Missense_Mutation_p.L577V|VPS13B_uc003yit.3_Missense_Mutation_p.L577V|VPS13B_uc003yiu.1_Missense_Mutation_p.L577V|VPS13B_uc003yix.1_Missense_Mutation_p.L48V	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	577					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CACCAAAAGCCTTGTTATAGG	0.373000														335			143		0	0	0.870114	0	0
OR10K2	391107	broad.mit.edu	37	1	158390123	158390123	+	Silent	SNP	G	A	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:158390123G>A	uc010pii.2	-	0	534	c.534C>T	c.(532-534)ttC>ttT	p.F178F		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA.	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					CAATGTCACAGAAGAAGTGAT	0.463000														470			91		0	0	0.870114	0	0
EOMES	8320	broad.mit.edu	37	3	27759190	27759190	+	Nonsense_Mutation	SNP	C	A	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr3:27759190C>A	uc003cdy.3	-	5	1489	c.1489G>T	c.(1489-1491)Gag>Tag	p.E497*	EOMES_uc003cdx.3_Nonsense_Mutation_p.E478*|EOMES_uc010hfn.2_3'UTR|EOMES_uc011axc.1_Nonsense_Mutation_p.E202*	NM_005442	NP_005433	O95936	EOMES_HUMAN	Homo sapiens eomesodermin (EOMES), mRNA.	478					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						ACAAAGGGCTCCGGGAAGAAG	0.527000														435			40		1.96642e-18	2.10635e-18	0.827153	1	0
RNF38	152006	broad.mit.edu	37	9	36390574	36390574	+	Missense_Mutation	SNP	G	C	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr9:36390574G>C	uc003zzh.3	-	1	243	c.52C>G	c.(52-54)Cct>Gct	p.P18A	RNF38_uc003zzi.3_Intron|RNF38_uc003zzj.3_5'UTR|RNF38_uc003zzk.3_Intron|RNF38_uc003zzl.3_Intron|RNF38_uc003zzm.3_5'UTR	NM_022781	NP_919313	Q9H0F5	RNF38_HUMAN	Homo sapiens ring finger protein 38 (RNF38), transcript variant 1, mRNA.	18							zinc ion binding			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			ACCTTGTTAGGATGGCCAGGT	0.488000														488			74		0	0	0.870114	0	0
CDT1	81620	broad.mit.edu	37	16	88873885	88873885	+	Missense_Mutation	SNP	G	A	A	rs146199695	byFrequency	TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr16:88873885G>A	uc002flu.3	+	8	1526	c.1472G>A	c.(1471-1473)aGc>aAc	p.S491N		NM_030928	NP_112190	Q9H211	CDT1_HUMAN	Homo sapiens chromatin licensing and DNA replication factor 1 (CDT1), mRNA.	491					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		ACTATCATGAGCCCTGGTACG	0.632000														160			7		0	0	0.278610	0	0
PRKDC	5591	broad.mit.edu	37	8	48744458	48744458	+	Silent	SNP	G	A	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:48744458G>A	uc003xqi.3	-	60	8236	c.8179C>T	c.(8179-8181)Ctg>Ttg	p.L2727L	PRKDC_uc003xqj.3_Silent_p.L2727L	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	2728	KIP-binding.				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			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)				CGTCTGCGCAGTCGTAGTAGG	0.552000								Non-homologous end-joining						691			125		0	0	0.870114	0	0
LRRC6	23639	broad.mit.edu	37	8	133595976	133595976	+	Silent	SNP	A	T	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:133595976A>T	uc003ytk.3	-	10	1265	c.1191T>A	c.(1189-1191)acT>acA	p.T397T	LRRC6_uc022bbp.1_Silent_p.T397T|LRRC6_uc003ytl.3_Non-coding_Transcript	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	Homo sapiens leucine rich repeat containing 6 (LRRC6), mRNA.	397						cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TGTCCGAGGTAGTTTTCATAG	0.403000														325			32		0	0	0.760397	0	0
TRMT61A	115708	broad.mit.edu	37	14	103996579	103996579	+	Silent	SNP	C	T	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr14:103996579C>T	uc001yng.3	+	1	383	c.264C>T	c.(262-264)taC>taT	p.Y88Y	TRMT61A_uc010aws.3_Intron	NM_152307	NP_689520	Q96FX7	TRM61_HUMAN	Homo sapiens tRNA methyltransferase 61 homolog A (S. cerevisiae) (TRMT61A), mRNA.	88						nucleus	protein binding|tRNA (adenine-N1-)-methyltransferase activity			skin(1)	1						AGATCCTCTACTCCACAGACA	0.622000														444			91		0	0	0.870114	0	0
HBE1	3046	broad.mit.edu	37	11	5289744	5289744	+	Missense_Mutation	SNP	C	G	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr11:5289744C>G	uc001mal.1	-	2	665	c.399G>C	c.(397-399)aaG>aaC	p.K133N	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Missense_Mutation_p.K133N	NM_005330	NP_005321	P02100	HBE_HUMAN	Homo sapiens hemoglobin, epsilon 1 (HBE1), mRNA.	133					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGACACCAGCTTCTGCCAGG	0.532000														531			109		0	0	0.870114	0	0
ST6GALNAC1	55808	broad.mit.edu	37	17	74625682	74625682	+	Silent	SNP	T	C	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:74625682T>C	uc002jsh.3	-	1	417	c.243A>G	c.(241-243)ccA>ccG	p.P81P	ST6GALNAC1_uc002jsi.3_5'UTR|ST6GALNAC1_uc002jsj.3_Non-coding_Transcript	NM_018414	NP_060884	Q9NSC7	SIA7A_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 (ST6GALNAC1), mRNA.	81					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						CATTGTTCTCTGGCACTGGCT	0.572000														660			19		0	0	0.539581	0	0
FASN	2194	broad.mit.edu	37	17	80049208	80049208	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:80049208G>A	uc002kdu.3	-	8	1499	c.1382C>T	c.(1381-1383)cCc>cTc	p.P461L	FASN_uc002kdw.1_5'Flank	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	461	Acyl and malonyl transferases (By similarity).			AVPA -> LSPT (in Ref. 2; AAA73576).	energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GGCGGTGGCGGGGACAGCCGC	0.701000														87			15		0	0	0.479597	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220326745	220326745	+	Missense_Mutation	SNP	A	C	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:220326745A>C	uc010puk.1	-	32	3813	c.3649T>G	c.(3649-3651)Tta>Gta	p.L1217V	RAB3GAP2_uc021pjf.1_Missense_Mutation_p.L1217V|RAB3GAP2_uc001hmf.2_Non-coding_Transcript|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.L797V	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 2 (non-catalytic) (RAB3GAP2), mRNA.	1217					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	p.L1217V(2)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		ACTTTCAATAAGAACTTGAAA	0.408000														370			80		0	0	0.870114	0	0
ATP5EP2	432369	broad.mit.edu	37	13	28519461	28519461	+	RNA	SNP	T	C	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr13:28519461T>C	uc001uru.3	+	0		c.119T>C								Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit pseudogene 2 (ATP5EP2), transcript variant 6, non-coding RNA.											ovary(1)	1						TGTGCAAAAGTAGTGAGAGAT	0.478000														120			5		0	0	0.184627	0	0
PLK4	10733	broad.mit.edu	37	4	128804674	128804674	+	Silent	SNP	A	G	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr4:128804674A>G	uc003ifo.3	+	3	577	c.303A>G	c.(301-303)ctA>ctG	p.L101L	PLK4_uc011cgs.2_Silent_p.L69L|PLK4_uc011cgt.2_Silent_p.L60L	NM_014264	NP_001177730	O00444	PLK4_HUMAN	Homo sapiens polo-like kinase 4 (PLK4), transcript variant 1, mRNA.	101	Protein kinase.				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						ACAGGTATCTAAAGAATAGAG	0.323000														257			86		0	0	0.870114	0	0
BRD4	23476	broad.mit.edu	37	19	15354198	15354198	+	Missense_Mutation	SNP	C	G	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:15354198C>G	uc002nar.3	-	13	2904	c.2682G>C	c.(2680-2682)ttG>ttC	p.L894F		NM_058243	NP_490597	O60885	BRD4_HUMAN	Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA.	894					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GTGTTTGGGTCAAGGCTGGTG	0.682000			T	C15orf55	lethal midline carcinoma of young people									65			5		0	0	0.184627	0	0
NLRP5	126206	broad.mit.edu	37	19	56565133	56565133	+	Silent	SNP	C	T	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:56565133C>T	uc002qmj.3	+	12	3258	c.3258C>T	c.(3256-3258)tgC>tgT	p.C1086C	NLRP5_uc002qmi.3_Silent_p.C1067C	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	1086						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CTGCGCTGTGCGAGGGACTGA	0.622000														308			47		0	0	0.870114	0	0
KIAA1467	57613	broad.mit.edu	37	12	13219646	13219646	+	Missense_Mutation	SNP	G	A	A	rs145573782	by1000genomes	TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr12:13219646G>A	uc001rbi.3	+	5	948	c.925G>A	c.(925-927)Gtt>Att	p.V309I	KIAA1467_uc021qvn.1_Intron	NM_020853	NP_065904	A2RU67	K1467_HUMAN	Homo sapiens KIAA1467 (KIAA1467), mRNA.	309						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		GTACAACATCGTTGGAGTTGG	0.507000														399			18		0	0	0.557998	0	0
TAF1L	138474	broad.mit.edu	37	9	32634851	32634851	+	Silent	SNP	A	G	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr9:32634851A>G	uc003zrg.1	-	0	817	c.727T>C	c.(727-729)Ttg>Ctg	p.L243L	AX747113_uc003zrh.1_Non-coding_Transcript	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	243					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ACACTTGGCAACAGCTTGGTG	0.488000														523			46		0	0	0.859065	0	0
PITRM1	10531	broad.mit.edu	37	10	3185639	3185639	+	Missense_Mutation	SNP	C	A	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr10:3185639C>A	uc009xhv.2	-	22	2659	c.2590G>T	c.(2590-2592)Gtg>Ttg	p.V864L	PITRM1_uc001igr.2_Missense_Mutation_p.V863L|PITRM1_uc001igt.2_Missense_Mutation_p.V863L|PITRM1_uc010qah.2_Missense_Mutation_p.V765L|PITRM1_uc001igu.1_Missense_Mutation_p.V789L|PITRM1_uc010qai.2_Missense_Mutation_p.V834L|LOC100507034_uc001igv.2_Intron	NM_001242307	NP_001229236	E7ES23	E7ES23_HUMAN	Homo sapiens pitrilysin metallopeptidase 1 (PITRM1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	765					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						ACGTAATTCACCGGGAAGGGC	0.592000														272			18		0.000566183	0.00057017	0.520397	1	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	A	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr9:20414340G>A	uc003zoe.2	-	4	763	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_uc011lne.1_Silent_p.S136S|MLLT3_uc011lnf.1_Silent_p.S165S|MLLT3_uc003zof.3_5'UTR	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)|p.S168S(10)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL									313			16		0	0	0.479597	0	0
ADPGK	83440	broad.mit.edu	37	15	73045100	73045100	+	Missense_Mutation	SNP	A	G	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr15:73045100A>G	uc002avg.4	-	6	1170	c.1076T>C	c.(1075-1077)cTc>cCc	p.L359P	ADPGK_uc002ave.4_Missense_Mutation_p.L84P|ADPGK_uc010ukw.2_Missense_Mutation_p.L301P|ADPGK_uc002avf.4_Missense_Mutation_p.L358P|ADPGK_uc002avi.4_Missense_Mutation_p.L236P|ADPGK_uc002avh.4_Missense_Mutation_p.L120P	NM_031284	NP_112574	Q9BRR6	ADPGK_HUMAN	Homo sapiens ADP-dependent glucokinase (ADPGK), transcript variant 1, mRNA.	359	ADPK.				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						GATCCAGAAGAGGATGTCACT	0.517000														390			84		0	0	0.870114	0	0
PLB1	151056	broad.mit.edu	37	2	28849295	28849295	+	Splice_Site	SNP	G	T	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr2:28849295G>T	uc002rmb.2	+	51	3624	c.3580_splice	c.e51-1	p.D1194_splice	PLB1_uc010ezj.2_Splice_Site_p.D1183_splice|PLB1_uc002rme.2_Splice_Site_p.D159_splice	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	1194	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GTCCCCTCAGGACATCAACCT	0.547000														246			33		3.11337e-16	3.31013e-16	0.769981	1	0
WDR45	11152	broad.mit.edu	37	X	48932556	48932556	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrX:48932556C>T	uc004dml.1	-	10	1164	c.992G>A	c.(991-993)gGg>gAg	p.G331E	WDR45_uc004dmi.3_5'Flank|WDR45_uc011mmt.2_Intron|WDR45_uc004dmj.1_Missense_Mutation_p.G291E|WDR45_uc004dmk.1_Missense_Mutation_p.G330E|WDR45_uc004dmn.1_Missense_Mutation_p.G221E|WDR45_uc004dmp.1_Missense_Mutation_p.G331E	NM_007075	NP_009006	Q9Y484	WIPI4_HUMAN	Homo sapiens WD repeat domain 45 (WDR45), transcript variant 1, mRNA.	330					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						GTGGAAGGTCCCATCTACGCA	0.537000														291			20		0	0	0.592651	0	0
KAT6A	7994	broad.mit.edu	37	8	41834718	41834718	+	Missense_Mutation	SNP	C	G	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:41834718C>G	uc010lxb.3	-	7	1715	c.1171G>C	c.(1171-1173)Gac>Cac	p.D391H	KAT6A_uc010lxc.3_Missense_Mutation_p.D391H|KAT6A_uc003xon.4_Missense_Mutation_p.D391H|KAT6A_uc010lxd.3_Missense_Mutation_p.D391H	NM_001099412	NP_006757	Q92794	MYST3_HUMAN	Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA.	391	Interaction with RUNX1-1.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										CTGCAGAAGTCCAAGCCATCT	0.453000														491			47		0	0	0.870114	0	0
SMARCA1	6594	broad.mit.edu	37	X	128624058	128624058	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrX:128624058C>T	uc011muk.1	-	14	2040	c.1927G>A	c.(1927-1929)Gat>Aat	p.D643N	SMARCA1_uc004eun.4_Missense_Mutation_p.D643N|SMARCA1_uc004eup.4_Missense_Mutation_p.D631N|SMARCA1_uc011mul.1_Missense_Mutation_p.D631N	NM_003069	NP_003060	P28370	SMCA1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 (SMARCA1), transcript variant 1, mRNA.	643	Helicase C-terminal.				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						ACAATTGAATCGAGTCTCAGT	0.328000														84			26		0	0	0.693898	0	0
FLT4	2324	broad.mit.edu	37	5	180056837	180056837	+	Splice_Site	SNP	T	A	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr5:180056837T>A	uc003mlz.4	-	6	756	c.677_splice	c.e6-1	p.G226_splice	FLT4_uc003mma.4_Splice_Site_p.G226_splice|FLT4_uc003mmb.1_5'Flank|FLT4_uc011dgy.2_Splice_Site_p.G226_splice|FLT4_uc011dgz.1_Splice_Site_p.G226_splice|FLT4_uc011dha.1_Intron	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	226	Ig-like C2-type 3.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GCTCGTTGCCTGTTGACACGC	0.607000														93			70		0	0	0.870114	0	0
SHARPIN	81858	broad.mit.edu	37	8	145154701	145154701	+	Missense_Mutation	SNP	C	G	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:145154701C>G	uc003zba.3	-	3	1048	c.564G>C	c.(562-564)gaG>gaC	p.E188D	SHARPIN_uc003zbb.3_Non-coding_Transcript	NM_030974	NP_112236	Q9H0F6	SHRPN_HUMAN	Homo sapiens SHANK-associated RH domain interactor (SHARPIN), transcript variant 1, mRNA.	188	Interaction with SHANK1 (By similarity).				negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway	LUBAC complex|cytosol	polyubiquitin binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGCCCCCTTCTCGTCTCCAC	0.637000														379			44		0	0	0.847076	0	0
KLK8	11202	broad.mit.edu	37	19	51503919	51503919	+	Silent	SNP	G	A	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:51503919G>A	uc002puq.1	-	2	312	c.126C>T	c.(124-126)gtC>gtT	p.V42V	KLK9_uc002puw.1_Intron|KLK8_uc002pur.1_Intron|KLK8_uc002pus.1_Intron|KLK8_uc002put.1_Intron|KLK8_uc002puu.1_Intron|KLK8_uc002puv.1_Intron	NM_144505	NP_653088	O60259	KLK8_HUMAN	Homo sapiens kallikrein-related peptidase 8 (KLK8), transcript variant 2, mRNA.	23	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		GGTTCAAATGGACACACGGCA	0.587000														401			38		0	0	0.819951	0	0
EDAR	10913	broad.mit.edu	37	2	109524464	109524464	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr2:109524464G>A	uc010fjn.3	-	9	1458	c.911C>T	c.(910-912)gCc>gTc	p.A304V	EDAR_uc010yws.2_Missense_Mutation_p.A304V|EDAR_uc002teq.4_Missense_Mutation_p.A272V	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	Homo sapiens ectodysplasin A receptor (EDAR), mRNA.	272					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						CTCGGATGAGGCATCGTTCTC	0.607000														173			25		0	0	0.667858	0	0
ZNF514	84874	broad.mit.edu	37	2	95815575	95815575	+	Missense_Mutation	SNP	G	T	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr2:95815575G>T	uc002sud.1	-	4	1245	c.874C>A	c.(874-876)Ctt>Att	p.L292I	ZNF514_uc002sue.1_Missense_Mutation_p.L219I	NM_032788	NP_116177	Q96K75	ZN514_HUMAN	Homo sapiens zinc finger protein 514 (ZNF514), mRNA.	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(6)|urinary_tract(1)	11						TGGCGCCTAAGTTCTGACTGG	0.443000														783			26		4.06085e-26	4.44982e-26	0.717897	1	0
LSM14A	26065	broad.mit.edu	37	19	34685499	34685499	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:34685499C>T	uc002nvb.4	+	1	434	c.238C>T	c.(238-240)Cca>Tca	p.P80S	LSM14A_uc002nva.4_Missense_Mutation_p.P80S|LSM14A_uc010xru.2_Missense_Mutation_p.P80S	NM_001114093	NP_001107565	Q8ND56	LS14A_HUMAN	Homo sapiens LSM14A, SCD6 homolog A (S. cerevisiae) (LSM14A), transcript variant 1, mRNA.	80					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					TGTTTGTGAGCCACCAAAACC	0.438000														611			90		0	0	0.870114	0	0
STK4	6789	broad.mit.edu	37	20	43703792	43703792	+	Missense_Mutation	SNP	A	T	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr20:43703792A>T	uc002xnb.3	+	10	1529	c.1439A>T	c.(1438-1440)aAg>aTg	p.K480M	STK4_uc010ggx.3_3'UTR|STK4_uc010ggy.3_Missense_Mutation_p.K425M|STK4_uc021wef.1_5'Flank	NM_006282	NP_006273	Q13043	STK4_HUMAN	Homo sapiens serine/threonine kinase 4 (STK4), mRNA.	480	SARAH.				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				ATAGAGGCTAAGAAGAGACGG	0.562000														211			10		0	0	0.361761	0	0
LOC440518	440518	broad.mit.edu	37	19	22785299	22785299	+	RNA	SNP	T	G	G	rs11670278	by1000genomes	TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:22785299T>G	uc002nqu.4	+	6		c.1475T>G								Homo sapiens golgin A2 pseudogene (LOC440518), non-coding RNA.																		CCCTGCAGGGTGCCATGGAGA	0.632000														121			8		0	0	0.387290	0	0
SCGN	10590	broad.mit.edu	37	6	25670278	25670278	+	Nonsense_Mutation	SNP	A	T	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr6:25670278A>T	uc003nfb.3	+	5	648	c.445A>T	c.(445-447)Aaa>Taa	p.K149*	SCGN_uc010jpz.3_Silent_p.L58L	NM_006998	NP_008929	O76038	SEGN_HUMAN	Homo sapiens secretagogin, EF-hand calcium binding protein (SCGN), mRNA.	149	EF-hand 4.					extracellular region|transport vesicle membrane	calcium ion binding	p.A148S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						TTCTGAGGCTAAACTGGAAGA	0.463000														544			101		0	0	0.870114	0	0
ZIC5	85416	broad.mit.edu	37	13	100617947	100617947	+	Missense_Mutation	SNP	T	A	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr13:100617947T>A	uc001vom.1	-	1	1925	c.1676A>T	c.(1675-1677)gAc>gTc	p.D559V		NM_033132	NP_149123	Q96T25	ZIC5_HUMAN	Homo sapiens Zic family member 5 (ZIC5), mRNA.	559					cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GTAGGATTTGTCACAGCCTCG	0.522000														394			140		0	0	0.870114	0	0
ZRANB3	84083	broad.mit.edu	37	2	135988368	135988368	+	Missense_Mutation	SNP	T	C	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr2:135988368T>C	uc002tum.3	-	12	1786	c.1669A>G	c.(1669-1671)Aca>Gca	p.T557A	ZRANB3_uc002tuk.3_Missense_Mutation_p.T100A|ZRANB3_uc002tul.3_Missense_Mutation_p.T557A	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN	Homo sapiens zinc finger, RAN-binding domain containing 3 (ZRANB3), mRNA.	557						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		GCTGTTTTTGTAGGGTCTGAT	0.413000														415			33		0	0	0.788014	0	0
AGTR2	186	broad.mit.edu	37	X	115303595	115303595	+	Missense_Mutation	SNP	G	T	T	rs121917810	byFrequency	TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrX:115303595G>T	uc022cdd.1	+	0	62	c.62G>T	c.(61-63)gGg>gTg	p.G21V	AGTR2_uc004eqh.4_Missense_Mutation_p.G21V	NM_000686	NP_000677	P50052	AGTR2_HUMAN	Homo sapiens angiotensin II receptor, type 2 (AGTR2), mRNA.	21					G-protein signaling, coupled to cGMP nucleotide second messenger|behavior|blood vessel remodeling|brain development|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity	p.F20F(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						CTTCACTTCGGGCTTGTGAAC	0.413000														228			34		2.42023e-17	2.58278e-17	0.779181	1	0
SLC45A4	57210	broad.mit.edu	37	8	142222650	142222650	+	Missense_Mutation	SNP	G	C	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:142222650G>C	uc003ywd.1	-	6	2102	c.1794C>G	c.(1792-1794)atC>atG	p.I598M	SLC45A4_uc003ywc.1_Missense_Mutation_p.I598M|SLC45A4_uc010meq.1_Missense_Mutation_p.I596M	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	649					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GGCTGTGGTGGATGTACTGCA	0.567000														204			11		0	0	0.361761	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8661292	8661292	+	Silent	SNP	C	A	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:8661292C>A	uc002mkj.1	-	9	1363	c.1089G>T	c.(1087-1089)ctG>ctT	p.L363L	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	363	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CCACCGGGGCCAGGCCTGGGA	0.657000														137			15		3.45872e-05	3.52026e-05	0.500413	1	0
EHBP1L1	254102	broad.mit.edu	37	11	65351822	65351822	+	Missense_Mutation	SNP	C	G	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr11:65351822C>G	uc001oeo.4	+	9	3469	c.3204C>G	c.(3202-3204)aaC>aaG	p.N1068K		NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	Homo sapiens EH domain binding protein 1-like 1 (EHBP1L1), mRNA.	1068	CH.									central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CCTGGCGCAACGGCTTGGCCT	0.622000														415			16		0	0	0.500413	0	0
CHD8	57680	broad.mit.edu	37	14	21861651	21861651	+	Silent	SNP	C	T	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr14:21861651C>T	uc001war.2	-	30	6368	c.6303G>A	c.(6301-6303)gaG>gaA	p.E2101E	CHD8_uc001was.2_Silent_p.E1822E|SNORD9_uc001wat.1_5'Flank	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	2101					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TCTCTTCCTTCTCATCCTCAC	0.498000														37			7		0	0	0.248553	0	0
BCKDHA	593	broad.mit.edu	37	19	41884321	41884321	+	Missense_Mutation	SNP	G	C	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:41884321G>C	uc002oqm.4	+	1	458	c.107G>C	c.(106-108)aGa>aCa	p.R36T	BCKDHA_uc002oqi.3_Missense_Mutation_p.R36T|BCKDHA_uc010ehq.3_Missense_Mutation_p.R36T|BCKDHA_uc010ehr.3_Missense_Mutation_p.R36T|BCKDHA_uc002oqk.4_Missense_Mutation_p.R36T|BCKDHA_uc010eht.3_Missense_Mutation_p.R36T|BCKDHA_uc010ehs.3_Missense_Mutation_p.R36T|BCKDHA_uc002oqn.3_Missense_Mutation_p.R36T	NM_000709	NP_000700	P12694	ODBA_HUMAN	Homo sapiens branched chain keto acid dehydrogenase E1, alpha polypeptide (BCKDHA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0				S -> A (in Ref. 3; AAB59549).	branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						TCCCCCTTAAGAGAGATAGCC	0.612000														601			32		0	0	0.769981	0	0
IGF2R	3482	broad.mit.edu	37	6	160492963	160492963	+	Missense_Mutation	SNP	A	C	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr6:160492963A>C	uc003qta.3	+	31	4613	c.4465A>C	c.(4465-4467)Agc>Cgc	p.S1489R		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	1489				S -> N (in Ref. 2; AAA59866).	receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CATGTTCATCAGCGCCGTGGA	0.517000														589			24		0	0	0.681144	0	0
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	T	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr13:115047559C>T	uc001vup.3	+	1	327	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	UPF3A_uc010tkn.2_Silent_p.L91L|UPF3A_uc001vuq.3_Silent_p.L91L|UPF3A_uc001vur.3_Non-coding_Transcript	NM_023011	NP_075387	Q9H1J1	REN3A_HUMAN	Homo sapiens UPF3 regulator of nonsense transcripts homolog A (yeast) (UPF3A), transcript variant 1, mRNA.	91	Required for interaction with UPF2.				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	RNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	p.L91L(16)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCTGCGCCCGCTGCCAGCACA	0.731000														26			3		0	0	0.115264	0	0
RHOBTB2	23221	broad.mit.edu	37	8	22864416	22864416	+	Missense_Mutation	SNP	C	G	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:22864416C>G	uc003xcp.2	+	6	1007	c.724C>G	c.(724-726)Cac>Gac	p.H242D	RHOBTB2_uc011kzp.1_Missense_Mutation_p.H227D|RHOBTB2_uc003xcq.2_Missense_Mutation_p.H220D|BC043400_uc003xcr.3_Non-coding_Transcript	NM_001160036	NP_055993	Q9BYZ6	RHBT2_HUMAN	Homo sapiens Rho-related BTB domain containing 2 (RHOBTB2), transcript variant 1, mRNA.	220					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CTGGAAGTCCCACCTCCGCAA	0.652000														529			82		0	0	0.870114	0	0
ANKRD13D	338692	broad.mit.edu	37	11	67067334	67067334	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr11:67067334C>T	uc001okd.2	+	8	1087	c.917C>T	c.(916-918)gCg>gTg	p.A306V	ANKRD13D_uc001okc.2_Missense_Mutation_p.A219V|ANKRD13D_uc001oke.2_Missense_Mutation_p.A219V|ANKRD13D_uc001okg.2_Missense_Mutation_p.A2V|ANKRD13D_uc001okh.2_Missense_Mutation_p.A2V|ANKRD13D_uc001oki.2_5'Flank	NM_207354	NP_997237	Q6ZTN6	AN13D_HUMAN	Homo sapiens ankyrin repeat domain 13 family, member D (ANKRD13D), transcript variant 1, mRNA.	219										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CTGGGGATGGCGCAGCAGCAT	0.687000														291			27		0	0	0.740014	0	0
ZNF318	24149	broad.mit.edu	37	6	43305986	43305986	+	Missense_Mutation	SNP	C	A	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr6:43305986C>A	uc003oux.3	-	9	5828	c.5750G>T	c.(5749-5751)aGt>aTt	p.S1917I	ZNF318_uc003ouw.3_Intron	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	1917					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CCCCTCCTCACTAACAACTGA	0.438000														509			75		3.66258e-25	3.98288e-25	0.870114	1	0
DNAH9	1770	broad.mit.edu	37	17	11650939	11650939	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:11650939G>A	uc002gne.3	+	31	6534	c.6466G>A	c.(6466-6468)Ggc>Agc	p.G2156S	DNAH9_uc010coo.3_Missense_Mutation_p.G1450S	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2156	AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CGCTGGTACCGGCAAGTCACA	0.572000														334			43		0	0	0.840704	0	0
DPP8	54878	broad.mit.edu	37	15	65793003	65793003	+	Silent	SNP	G	A	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr15:65793003G>A	uc002aov.3	-	3	2113	c.535C>T	c.(535-537)Ctg>Ttg	p.L179L	DPP8_uc002aow.3_Silent_p.L179L|DPP8_uc010uiv.2_Non-coding_Transcript|DPP8_uc021soz.1_Silent_p.L163L|DPP8_uc002aox.3_Silent_p.L163L|DPP8_uc002aoy.3_Silent_p.L179L|DPP8_uc002aoz.3_Silent_p.L163L|DPP8_uc010bhj.3_Silent_p.L179L	NM_130434	NP_569118	Q6V1X1	DPP8_HUMAN	Homo sapiens dipeptidyl-peptidase 8 (DPP8), transcript variant 1, mRNA.	179					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity	p.L163V(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GCTTGAAACAGAAATGTTCCA	0.403000														757			102		0	0	0.870114	0	0
SCGN	10590	broad.mit.edu	37	6	25670281	25670281	+	Missense_Mutation	SNP	C	A	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr6:25670281C>A	uc003nfb.3	+	5	651	c.448C>A	c.(448-450)Ctg>Atg	p.L150M	SCGN_uc010jpz.3_Missense_Mutation_p.N59K	NM_006998	NP_008929	O76038	SEGN_HUMAN	Homo sapiens secretagogin, EF-hand calcium binding protein (SCGN), mRNA.	150	EF-hand 4.					extracellular region|transport vesicle membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						TGAGGCTAAACTGGAAGAATA	0.463000														533			97		2.44874e-31	2.7357e-31	0.870114	1	0
BSX	390259	broad.mit.edu	37	11	122850021	122850021	+	Missense_Mutation	SNP	G	C	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr11:122850021G>C	uc010rzs.2	-	1	407	c.407C>G	c.(406-408)tCc>tGc	p.S136C		NM_001098169	NP_001091639	Q3C1V8	BSH_HUMAN	Homo sapiens brain-specific homeobox (BSX), mRNA.	136										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		TTCTGGCGTGGACAGGTAGCG	0.657000														459			24		0	0	0.654019	0	0
C1orf162	128346	broad.mit.edu	37	1	112020662	112020662	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:112020662G>A	uc001ebe.3	+	5	445	c.385G>A	c.(385-387)Gaa>Aaa	p.E129K		NM_174896	NP_777556	Q8NEQ5	CA162_HUMAN	Homo sapiens chromosome 1 open reading frame 162 (C1orf162), mRNA.	129						integral to membrane				NS(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134)		CAAACTCTCAGAAGAAAAGAG	0.433000														339			67		0	0	0.870114	0	0
TNRC18	84629	broad.mit.edu	37	7	5427483	5427483	+	Missense_Mutation	SNP	G	T	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr7:5427483G>T	uc003soi.4	-	4	2321	c.1972C>A	c.(1972-1974)Ccc>Acc	p.P658T	TNRC18_uc010ksx.1_Missense_Mutation_p.P584T	NM_001080495	NP_001073964	O15417	TNC18_HUMAN	Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA.	658							DNA binding	p.P658T(2)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GCGCTCTCGGGCCTCTCGGGG	0.736000														95			13		1.61879e-10	1.68969e-10	0.411799	1	0
HMCN1	83872	broad.mit.edu	37	1	185966578	185966578	+	Missense_Mutation	SNP	G	C	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:185966578G>C	uc001grq.1	+	24	4025	c.3796G>C	c.(3796-3798)Gat>Cat	p.D1266H		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	1266	Ig-like C2-type 10.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CACAGTGGAAGATCTAGAACC	0.383000														282			50		0	0	0.870114	0	0
NEK10	152110	broad.mit.edu	37	3	27297832	27297832	+	Missense_Mutation	SNP	T	C	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr3:27297832T>C	uc003cdt.2	-	23	2319	c.2045A>G	c.(2044-2046)gAa>gGa	p.E682G	NEK10_uc003cds.1_Missense_Mutation_p.E79G	NM_199347	NP_955379	Q6ZWH5	NEK10_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA.	682	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTTACTGTTTTCTTGTTTTTG	0.358000														117			12		0	0	0.457914	0	0
TNXB	7148	broad.mit.edu	37	6	32020759	32020759	+	Missense_Mutation	SNP	C	G	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr6:32020759C>G	uc003nzl.2	-	25	8999	c.8797G>C	c.(8797-8799)Gaa>Caa	p.E2933Q		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2980	Fibronectin type-III 21.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCGGGAGTTTCTTCCTCTGCA	0.637000														209			47		0	0	0.870114	0	0
TIMP1	7076	broad.mit.edu	37	X	47446054	47446054	+	Silent	SNP	G	C	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrX:47446054G>C	uc004dif.3	+	5	780	c.588G>C	c.(586-588)ctG>ctC	p.L196L	SYN1_uc004did.3_Intron|SYN1_uc004die.3_Intron|MIR4769_uc022bvo.1_5'Flank	NM_003254	NP_003245	P01033	TIMP1_HUMAN	Homo sapiens TIMP metallopeptidase inhibitor 1 (TIMP1), mRNA.	196					erythrocyte maturation|negative regulation of membrane protein ectodomain proteolysis|platelet activation|platelet degranulation|positive regulation of cell proliferation	platelet alpha granule lumen	metal ion binding|metalloendopeptidase inhibitor activity|protein binding			endometrium(1)|large_intestine(2)	3						AGCCAGGGCTGTGCACCTGGC	0.612000														201			12		0	0	0.411799	0	0
NOS2	4843	broad.mit.edu	37	17	26108128	26108128	+	Silent	SNP	G	T	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:26108128G>T	uc002gzu.3	-	7	1062	c.798C>A	c.(796-798)cgC>cgA	p.R266R	NOS2_uc010crh.1_Silent_p.R266R|NOS2_uc010wab.1_Silent_p.R266R	NM_000625	NP_000616	P35228	NOS2_HUMAN	Homo sapiens nitric oxide synthase 2, inducible (NOS2), mRNA.	266				R -> H (in Ref. 8; AAC19133).	arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	FMN binding|NADP binding|arginine binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	AGCCAGCATAGCGGATGAGCT	0.612000														406			13		1.05317e-09	1.0953e-09	0.457914	1	0
LSS	4047	broad.mit.edu	37	21	47614458	47614458	+	Silent	SNP	G	T	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr21:47614458G>T	uc002zij.3	-	19	2014	c.1935C>A	c.(1933-1935)gcC>gcA	p.A645A	LSS_uc002zil.2_Silent_p.A645A|LSS_uc011afv.1_Silent_p.A634A|LSS_uc002zik.2_Silent_p.A565A	NM_001001438	NP_002331	P48449	ERG7_HUMAN	Homo sapiens lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) (LSS), transcript variant 2, mRNA.	645					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					TCTGGGACTGGGCACTCTGCA	0.632000														147			41		4.92203e-23	5.33219e-23	0.819951	1	0
CHD4	1108	broad.mit.edu	37	12	6692545	6692545	+	Splice_Site	SNP	C	A	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr12:6692545C>A	uc001qpo.3	-	26	4044	c.3880_splice	c.e26-1	p.E1294_splice	CHD4_uc001qpn.3_Splice_Site_p.E1287_splice|CHD4_uc001qpp.3_Splice_Site_p.E1291_splice|AK096395_uc001qpq.1_3'UTR|SCARNA11_uc001qpr.1_5'Flank	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	1294	Poly-Glu.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CCTCTTCCTCCTGGGACAGAG	0.532000														628			24		3.5997e-14	3.79894e-14	0.624587	1	0
OCRL	4952	broad.mit.edu	37	X	128696369	128696369	+	Silent	SNP	G	A	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrX:128696369G>A	uc004euq.3	+	10	1113	c.948G>A	c.(946-948)ctG>ctA	p.L316L	OCRL_uc004eur.3_Silent_p.L316L	NM_000276	NP_000267	Q01968	OCRL_HUMAN	Homo sapiens oculocerebrorenal syndrome of Lowe (OCRL), transcript variant a, mRNA.	316					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi stack|Golgi-associated vesicle|clathrin-coated vesicle|cytosol|early endosome	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						AGGTTCAACTGGTGCGCCTTG	0.403000														328			85		0	0	0.870114	0	0
NCAM1	4684	broad.mit.edu	37	11	113105776	113105776	+	Missense_Mutation	SNP	C	A	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr11:113105776C>A	uc021qqp.1	+	14	2159	c.1787C>A	c.(1786-1788)aCc>aAc	p.T596N	NCAM1_uc001pnp.3_Missense_Mutation_p.T560N|NCAM1_uc021qqo.1_Missense_Mutation_p.T560N|NCAM1_uc001pnq.3_Missense_Mutation_p.T570N|NCAM1_uc001pnr.3_Missense_Mutation_p.T560N	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN	Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.	572	Fibronectin type-III 1.				axon guidance|interferon-gamma-mediated signaling pathway	Golgi membrane|anchored to membrane|extracellular region|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GGCATCGTCACCATCGTGGGC	0.547000														35			10		0.000442599	0.000447291	0.335167	1	0
SERPINB1	1992	broad.mit.edu	37	6	2838132	2838132	+	Silent	SNP	G	A	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr6:2838132G>A	uc003mub.3	-	3	452	c.408C>T	c.(406-408)gtC>gtT	p.V136V	SERPINB1_uc021ykq.1_Non-coding_Transcript	NM_030666	NP_109591	P30740	ILEU_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 1 (SERPINB1), mRNA.	136					regulation of proteolysis	cytoplasm|extracellular space	serine-type endopeptidase inhibitor activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13	Ovarian(93;0.0412)			OV - Ovarian serous cystadenocarcinoma(45;0.0717)		TCTGTCCTTTGACCCACTGGT	0.488000														781			71		0	0	0.870114	0	0
TCRAV5.1a	0	broad.mit.edu	37	14	22236771	22236771	+	Silent	SNP	C	T	T	rs11623408	by1000genomes	TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr14:22236771C>T	uc001wbt.1	+	0	43	c.36C>T	c.(34-36)ttC>ttT	p.F12F	TRA_uc021rpa.1_Intron|TCRAV5.1a_uc021rpd.1_5'Flank					Homo sapiens mRNA for T cell receptor alpha variable 6, partial cds, clone: un 84-2.																		GTCTACATTTCAGGCCACATT	0.468000														888			27		0	0	0.717897	0	0
DLG5	9231	broad.mit.edu	37	10	79589222	79589222	+	Silent	SNP	G	A	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr10:79589222G>A	uc001jzk.3	-	11	2146	c.2076C>T	c.(2074-2076)atC>atT	p.I692I	DLG5_uc001jzj.3_Silent_p.I447I|DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzl.4_Silent_p.I296I	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	692	PDZ 1.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GGAGCGCCTTGATGGCCTGCT	0.587000														750			25		0	0	0.667858	0	0
ITGAE	3682	broad.mit.edu	37	17	3661083	3661083	+	Missense_Mutation	SNP	C	A	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:3661083C>A	uc002fwo.4	-	8	1036	c.937G>T	c.(937-939)Ggt>Tgt	p.G313C		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	313	VWFA.				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		AATATGCCACCATCGGTGAGC	0.542000														706			131		2.29838e-65	2.58793e-65	0.870114	1	0
TBX18	9096	broad.mit.edu	37	6	85457659	85457659	+	Silent	SNP	G	A	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr6:85457659G>A	uc003pkl.1	-	4	918	c.918C>T	c.(916-918)gtC>gtT	p.V306V	TBX18_uc010kbq.2_Silent_p.V148V	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	Homo sapiens T-box 18 (TBX18), mRNA.	306					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GATAGGCAGTGACGGTTGTGA	0.438000														190			30		0	0	0.750413	0	0
TRIML1	339976	broad.mit.edu	37	4	189065010	189065010	+	Missense_Mutation	SNP	G	C	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr4:189065010G>C	uc003izm.1	+	3	869	c.754G>C	c.(754-756)Gaa>Caa	p.E252Q	TRIML1_uc003izn.1_5'UTR	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	252					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AGGAGCCCTGGAAAGGTAGGC	0.488000														607			125		0	0	0.870114	0	0
PTDSS1	9791	broad.mit.edu	37	8	97311970	97311970	+	Missense_Mutation	SNP	C	G	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:97311970C>G	uc003yht.1	+	5	751	c.649C>G	c.(649-651)Caa>Gaa	p.Q217E	PTDSS1_uc003yhu.1_Missense_Mutation_p.Q71E	NM_014754	NP_055569	P48651	PTSS1_HUMAN	Homo sapiens phosphatidylserine synthase 1 (PTDSS1), mRNA.	217					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	CTGGTGGGATCAAGTCATTCT	0.493000														818			56		0	0	0.870114	0	0
SLC25A13	10165	broad.mit.edu	37	7	95818665	95818665	+	Silent	SNP	G	T	T	rs142308242		TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr7:95818665G>T	uc003uog.4	-	8	1065	c.874C>A	c.(874-876)Cgg>Agg	p.R292R	SLC25A13_uc003uof.4_Silent_p.R292R|SLC25A13_uc011kik.2_Silent_p.R184R	NM_001160210	NP_001153682	Q9UJS0	CMC2_HUMAN	Homo sapiens solute carrier family 25, member 13 (citrin) (SLC25A13), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	292					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|calcium ion binding	p.R292L(1)		breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	GGAGCAATCCGTTCAATGTCT	0.408000														148			31		9.17885e-22	9.90623e-22	0.779181	1	0
CD58	965	broad.mit.edu	37	1	117087113	117087113	+	Missense_Mutation	SNP	T	C	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:117087113T>C	uc001egm.3	-	1	305	c.184A>G	c.(184-186)Aaa>Gaa	p.K62E	CD58_uc001egn.3_Non-coding_Transcript|CD58_uc010owy.2_Missense_Mutation_p.K62E|CD58_uc001ego.1_Non-coding_Transcript|CD58_uc001egp.4_Missense_Mutation_p.K62E	NM_001779	NP_001770	P19256	LFA3_HUMAN	Homo sapiens CD58 molecule (CD58), transcript variant 1, mRNA.	62					blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		TCTGCAACTTTATCCTTTTGT	0.348000														168			38		0	0	0.827153	0	0
MYADML	151325	broad.mit.edu	37	2	33952621	33952621	+	Silent	SNP	G	A	A	rs11684598	by1000genomes	TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr2:33952621G>A	uc002rpb.3	-	0	664	c.222C>T	c.(220-222)taC>taT	p.Y74Y						Homo sapiens myeloid-associated differentiation marker-like (MYADML), non-coding RNA.																		CTTCGGTGGCGTAAGCCACAC	0.647000														153			6		0	0	0.217242	0	0
STK4	6789	broad.mit.edu	37	20	43703783	43703783	+	Missense_Mutation	SNP	T	A	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr20:43703783T>A	uc002xnb.3	+	10	1520	c.1430T>A	c.(1429-1431)aTa>aAa	p.I477K	STK4_uc010ggx.3_3'UTR|STK4_uc010ggy.3_Missense_Mutation_p.I422K|STK4_uc021wef.1_5'Flank	NM_006282	NP_006273	Q13043	STK4_HUMAN	Homo sapiens serine/threonine kinase 4 (STK4), mRNA.	477	SARAH.				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				CTGGATGCCATAGAGGCTAAG	0.572000														216			11		0	0	0.387290	0	0
CSPP1	79848	broad.mit.edu	37	8	68062034	68062034	+	Missense_Mutation	SNP	G	C	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:68062034G>C	uc003xxi.3	+	17	2113	c.2082G>C	c.(2080-2082)atG>atC	p.M694I	CSPP1_uc003xxg.1_Missense_Mutation_p.M686I|CSPP1_uc003xxh.1_Non-coding_Transcript|CSPP1_uc003xxj.3_Missense_Mutation_p.M659I|CSPP1_uc003xxk.3_Intron	NM_024790	NP_079066	Q1MSJ5	CSPP1_HUMAN	Homo sapiens centrosome and spindle pole associated protein 1 (CSPP1), mRNA.	694						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TGAATAGGATGCACAGACAAA	0.328000														799			102		0	0	0.870114	0	0
WDR83	84292	broad.mit.edu	37	19	12786384	12786384	+	Silent	SNP	G	A	A	rs142130654	by1000genomes	TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:12786384G>A	uc002mue.4	+	10	1191	c.846G>A	c.(844-846)tcG>tcA	p.S282S	WDR83_uc002muc.3_Non-coding_Transcript|WDR83_uc010dyw.3_Silent_p.S282S	NM_001099737	NP_115708	Q9BRX9	WDR83_HUMAN	Homo sapiens WD repeat domain 83 (WDR83), transcript variant 1, mRNA.	282					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm				breast(2)|large_intestine(1)|lung(1)	4						TGGTGCAGTCGCTGGCCTACC	0.657000											OREG0025272	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		226			33		0	0	0.796494	0	0
HSP90AB3P	3327	broad.mit.edu	37	4	88813659	88813659	+	Missense_Mutation	SNP	C	G	G	rs3828552	by1000genomes	TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr4:88813659C>G	uc010iko.1	+	1	603	c.603C>G	c.(601-603)gaC>gaG	p.D201E						Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 3, pseudogene (HSP90AB3P), non-coding RNA.																		AGGAACAAGACAAGGAAATTA	0.418000														396			14		0	0	0.457914	0	0
RFX3	5991	broad.mit.edu	37	9	3271027	3271027	+	Missense_Mutation	SNP	T	C	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr9:3271027T>C	uc003zhr.3	-	10	1490	c.1178A>G	c.(1177-1179)gAt>gGt	p.D393G	RFX3_uc010mhd.3_Missense_Mutation_p.D393G|RFX3_uc003zhs.1_Missense_Mutation_p.D393G|RFX3_uc003zht.1_Missense_Mutation_p.D393G	NM_134428	NP_602304	P48380	RFX3_HUMAN	Homo sapiens regulatory factor X, 3 (influences HLA class II expression) (RFX3), transcript variant 2, mRNA.	393					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		GGTAGTGCCATCAGTTGGAGT	0.368000														362			48		0	0	0.870114	0	0
OPRL1	4987	broad.mit.edu	37	20	62729444	62729444	+	Missense_Mutation	SNP	T	A	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr20:62729444T>A	uc002yic.3	+	3	942	c.523T>A	c.(523-525)Tgg>Agg	p.W175R	OPRL1_uc002yid.3_Missense_Mutation_p.W175R|OPRL1_uc021wgs.1_Missense_Mutation_p.W175R|OPRL1_uc002yif.4_Missense_Mutation_p.W170R	NM_182647	NP_872588	P41146	OPRX_HUMAN	Homo sapiens opiate receptor-like 1 (OPRL1), transcript variant 1, mRNA.	175					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	X-opioid receptor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					TGTGGCCATCTGGGCCCTGGC	0.627000														488			49		0	0	0.870114	0	0
PDE8B	8622	broad.mit.edu	37	5	76507011	76507011	+	Silent	SNP	G	A	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr5:76507011G>A	uc003kfa.3	+	0	306	c.261G>A	c.(259-261)gcG>gcA	p.A87A	PDE8B_uc003kfd.3_Silent_p.A87A|PDE8B_uc003kfe.3_Silent_p.A87A|PDE8B_uc003kfb.3_Silent_p.A87A|PDE8B_uc003kfc.3_Silent_p.A87A	NM_003719	NP_003710	O95263	PDE8B_HUMAN	Homo sapiens phosphodiesterase 8B (PDE8B), transcript variant 1, mRNA.	87					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		CCCCCGCCGCGACCACCAGCA	0.751000														10			7		0	0	0.278610	0	0
CTSF	8722	broad.mit.edu	37	11	66331559	66331559	+	Splice_Site	SNP	C	T	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr11:66331559C>T	uc001oip.3	-	12	1470	c.1380_splice	c.e12+1	p.K460_splice		NM_003793	NP_003784	Q9UBX1	CATF_HUMAN	Homo sapiens cathepsin F (CTSF), mRNA.	460				SDVPFWAIKNSWGTDWGEKGYYYLHRGSGACGVNTMASSAV VD -> EFRCLSCIQPGHRQGWDHSISGPLEGK (in Ref. 9).	proteolysis	lysosome	cysteine-type endopeptidase activity			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CAAGACTCACCTTCTCACCCC	0.612000														112			14		0	0	0.457914	0	0
ABCB1	5243	broad.mit.edu	37	7	87178760	87178760	+	Silent	SNP	A	G	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr7:87178760A>G	uc003uiz.2	-	14	2122	c.1629T>C	c.(1627-1629)cgT>cgC	p.R543R	ABCB1_uc011khc.2_Silent_p.R479R	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	543	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	GAACCAGGGCACGTGCAATGG	0.547000														392			76		0	0	0.870114	0	0
ZHX1	11244	broad.mit.edu	37	8	124267697	124267697	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:124267697C>T	uc003yqe.3	-	2	1100	c.490G>A	c.(490-492)Gag>Aag	p.E164K	C8orf76_uc003yqd.3_Intron|ZHX1_uc003yqf.3_Missense_Mutation_p.E164K|ZHX1_uc003yqg.3_Intron|ZHX1_uc010mdi.3_Missense_Mutation_p.E164K|ZHX1_uc022bak.1_Missense_Mutation_p.E164K	NM_007222	NP_009153	Q9UKY1	ZHX1_HUMAN	Homo sapiens zinc fingers and homeoboxes 1 (ZHX1), transcript variant 2, mRNA.	164					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TCTGCTTGCTCTGCATTCTCC	0.323000														636			29		0	0	0.717897	0	0
SNRNP27	11017	broad.mit.edu	37	2	70123654	70123654	+	Missense_Mutation	SNP	C	A	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr2:70123654C>A	uc002sfw.3	+	2	284	c.242C>A	c.(241-243)aCa>aAa	p.T81K	SNRNP27_uc002sfv.3_Non-coding_Transcript	NM_006857	NP_006848	Q8WVK2	SNR27_HUMAN	Homo sapiens small nuclear ribonucleoprotein 27kDa (U4/U6.U5) (SNRNP27), transcript variant 1, mRNA.	81			T -> I.		RNA splicing|mRNA processing	nucleus	nucleic acid binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						acaaaagaaacaaagaGCAAA	0.318000														220			7		8.12818e-05	8.24348e-05	0.248553	1	0
PET112	5188	broad.mit.edu	37	4	152638043	152638043	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr4:152638043C>T	uc003iml.3	-	3	666	c.625G>A	c.(625-627)Gat>Aat	p.D209N	PET112_uc003imm.4_Missense_Mutation_p.D209N	NM_004564	NP_004555	O75879	GATB_HUMAN	Homo sapiens PET112 homolog (yeast) (PET112), nuclear gene encoding mitochondrial protein, mRNA.	209						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTGTTCAAATCAATGAGCGTC	0.493000														462			58		0	0	0.870114	0	0
SPG7	6687	broad.mit.edu	37	16	89611106	89611106	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr16:89611106G>A	uc002fnj.3	+	9	1396	c.1375G>A	c.(1375-1377)Gac>Aac	p.D459N	SPG7_uc002fnk.1_Non-coding_Transcript	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN	Homo sapiens spastic paraplegia 7 (pure and complicated autosomal recessive) (SPG7), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	459					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GAACCGAGCTGACATTTTGGA	0.602000														428			68		0	0	0.870114	0	0
C19orf59	199675	broad.mit.edu	37	19	7743463	7743463	+	Missense_Mutation	SNP	A	G	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:7743463A>G	uc002mhh.1	+	4	485	c.460A>G	c.(460-462)Att>Gtt	p.I154V	TRAPPC5_uc002mhi.1_5'Flank|TRAPPC5_uc002mhj.1_5'Flank|TRAPPC5_uc002mhk.1_5'Flank	NM_174918	NP_777578	Q8IX19	MCEM1_HUMAN	Homo sapiens chromosome 19 open reading frame 59 (C19orf59), mRNA.	154						integral to membrane		p.I154T(1)		endometrium(1)|lung(2)|skin(1)|stomach(1)	5						CAGGAGCAAGATTGATAGATT	0.522000											OREG0025208	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		236			43		0	0	0.853193	0	0
MYO9B	4650	broad.mit.edu	37	19	17311139	17311139	+	Missense_Mutation	SNP	G	C	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:17311139G>C	uc010eak.3	+	24	4428	c.4276G>C	c.(4276-4278)Gat>Cat	p.D1426H	MYO9B_uc002nfi.3_Missense_Mutation_p.D1426H|MYO9B_uc002nfj.1_Missense_Mutation_p.D1426H|MYO9B_uc002nfl.1_5'UTR	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.	1426	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	ADP binding|ATP binding|ATPase activity|Rho GTPase activator activity|actin binding|calmodulin binding|metal ion binding|microfilament motor activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						TAAAACCAAGGATAAAAAATA	0.507000														105			9		0	0	0.307466	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45486422	45486422	+	Missense_Mutation	SNP	G	T	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:45486422G>T	uc001cnd.2	-	11	2716	c.2488C>A	c.(2488-2490)Cag>Aag	p.Q830K		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	Homo sapiens zinc finger, SWIM-type containing 5 (ZSWIM5), mRNA.	830							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					ATGTGCTTCTGTATTGCTTCC	0.448000														786			121		4.16832e-71	4.71201e-71	0.870114	1	0
FAM180A	389558	broad.mit.edu	37	7	135418815	135418815	+	Missense_Mutation	SNP	G	C	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr7:135418815G>C	uc003vtd.3	-	2	696	c.430C>G	c.(430-432)Cag>Gag	p.Q144E	FAM180A_uc010lmt.3_Non-coding_Transcript|FAM180A_uc010lmu.2_Missense_Mutation_p.Q144E	NM_205855	NP_995327	Q6UWF9	F180A_HUMAN	Homo sapiens family with sequence similarity 180, member A (FAM180A), mRNA.	144						extracellular region				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						ATGTCCTTCTGATGGCCGTGG	0.607000														281			39		0	0	0.812448	0	0
EML4	27436	broad.mit.edu	37	2	42511790	42511790	+	Missense_Mutation	SNP	G	T	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr2:42511790G>T	uc002rsi.3	+	8	1220	c.958G>T	c.(958-960)Gac>Tac	p.D320Y	EML4_uc010fap.3_Missense_Mutation_p.D262Y|EML4_uc002rsj.3_5'Flank	NM_019063	NP_061936	Q9HC35	EMAL4_HUMAN	Homo sapiens echinoderm microtubule associated protein like 4 (EML4), transcript variant 1, mRNA.	320					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						TATACATCCTGACAAAATTAG	0.378000			T	ALK	NSCLC									274			43		1.23103e-26	1.35413e-26	0.864702	1	0
BCL11A	53335	broad.mit.edu	37	2	60688255	60688255	+	Missense_Mutation	SNP	C	A	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr2:60688255C>A	uc002sae.1	-	3	2020	c.1792G>T	c.(1792-1794)Gac>Tac	p.D598Y	BCL11A_uc002sab.3_Missense_Mutation_p.D598Y|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Missense_Mutation_p.D267Y|BCL11A_uc010ypj.2_Missense_Mutation_p.D564Y|BCL11A_uc002sad.1_Missense_Mutation_p.D446Y|BCL11A_uc002saf.1_Missense_Mutation_p.D564Y	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	598					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GTGCCATCGTCTATGCGGTCC	0.697000			T	IGH@	B-CLL									188			34		2.09667e-21	2.25431e-21	0.788014	1	0
CDCA5	113130	broad.mit.edu	37	11	64847203	64847203	+	Silent	SNP	C	T	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr11:64847203C>T	uc001ocp.2	-	4	465	c.300G>A	c.(298-300)gaG>gaA	p.E100E		NM_080668	NP_542399	Q96FF9	CDCA5_HUMAN	Homo sapiens cell division cycle associated 5 (CDCA5), mRNA.	100					G1/S transition of mitotic cell cycle|cell division|double-strand break repair|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin	cytoplasm|nuclear chromatin|plasma membrane	chromatin binding|identical protein binding			large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						TGAAAAGGTCCTCCTTAGTAA	0.567000														67			4		0	0	0.150653	0	0
CHRNB2	1141	broad.mit.edu	37	1	154544140	154544140	+	Missense_Mutation	SNP	C	G	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:154544140C>G	uc001ffg.3	+	4	1105	c.841C>G	c.(841-843)Ctg>Gtg	p.L281V		NM_000748	NP_000739	P17787	ACHB2_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 2 (neuronal) (CHRNB2), mRNA.	281					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	GGTCTTCCTGCTGCTCATCTC	0.577000														623			71		0	0	0.870114	0	0
COMMD8	54951	broad.mit.edu	37	4	47462175	47462175	+	Missense_Mutation	SNP	A	C	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr4:47462175A>C	uc003gxi.3	-	1	216	c.208T>G	c.(208-210)Tta>Gta	p.L70V		NM_017845	NP_060315	Q9NX08	COMD8_HUMAN	Homo sapiens COMM domain containing 8 (COMMD8), mRNA.	70							protein binding			large_intestine(2)|lung(5)|prostate(1)	8						TCATCAGGTAAGTTTTTACCA	0.343000														397			58		0	0	0.870114	0	0
SCAF8	22828	broad.mit.edu	37	6	155123170	155123170	+	Silent	SNP	C	T	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr6:155123170C>T	uc003qqa.3	+	7	904	c.672C>T	c.(670-672)gcC>gcT	p.A224A	SCAF8_uc011efj.2_Silent_p.A290A|SCAF8_uc011efk.2_Silent_p.A269A|SCAF8_uc003qpz.3_Silent_p.A224A|SCAF8_uc010kji.3_Silent_p.A245A	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN	Homo sapiens SR-related CTD-associated factor 8 (SCAF8), mRNA.	224	Gln-rich.				RNA splicing|mRNA processing	nuclear matrix|spliceosomal complex	RNA binding|RNA polymerase core enzyme binding|nucleotide binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						TTCTGCAGGCCCTAGATGCTG	0.443000														276			81		0	0	0.870114	0	0
NOL6	65083	broad.mit.edu	37	9	33468069	33468069	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr9:33468069C>T	uc003zsz.3	-	10	1484	c.1383G>A	c.(1381-1383)atG>atA	p.M461I	NOL6_uc003zsy.3_5'Flank|NOL6_uc003zta.3_Missense_Mutation_p.M461I|NOL6_uc010mjv.3_Missense_Mutation_p.M458I|NOL6_uc011lob.2_Missense_Mutation_p.M409I|NOL6_uc003ztb.1_Missense_Mutation_p.M461I	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	Homo sapiens nucleolar protein family 6 (RNA-associated) (NOL6), transcript variant alpha, mRNA.	461					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		GTTTGGGAGTCATCAACAGCA	0.567000														590			29		0	0	0.740014	0	0
TMOD1	7111	broad.mit.edu	37	9	100328234	100328234	+	Silent	SNP	G	A	A	rs142987399		TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr9:100328234G>A	uc004axl.2	+	6	859	c.723G>A	c.(721-723)gcG>gcA	p.A241A	TMOD1_uc004axk.2_Silent_p.A241A	NM_001166116	NP_003266	P28289	TMOD1_HUMAN	Homo sapiens tropomodulin 1 (TMOD1), transcript variant 2, mRNA.	241					muscle filament sliding	cytosol	actin binding	p.A241V(1)		breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		ACCCCGTGGCGTATGTATGTA	0.493000														300			59		0	0	0.870114	0	0
OR6Y1	391112	broad.mit.edu	37	1	158517108	158517108	+	Missense_Mutation	SNP	G	T	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:158517108G>T	uc010pil.2	-	0	788	c.788C>A	c.(787-789)aCc>aAc	p.T263N		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily Y, member 1 (OR6Y1), mRNA.	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					ACGGGCATAGGTGAAAAGTGT	0.483000														608			98		9.86815e-39	1.10678e-38	0.870114	1	0
SPATA2L	124044	broad.mit.edu	37	16	89764126	89764126	+	Silent	SNP	C	T	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr16:89764126C>T	uc002foj.3	-	2	978	c.891G>A	c.(889-891)gaG>gaA	p.E297E	SPATA2L_uc002fok.3_Intron	NM_152339	NP_689552	Q8IUW3	SPA2L_HUMAN	Homo sapiens spermatogenesis associated 2-like (SPATA2L), mRNA.	297										breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		CCAGCCCCTCCTCCAAGGCCC	0.682000														104			15		0	0	0.479597	0	0
UBE2Q1	55585	broad.mit.edu	37	1	154525225	154525225	+	Missense_Mutation	SNP	C	G	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:154525225C>G	uc001fff.1	-	5	892	c.801G>C	c.(799-801)caG>caC	p.Q267H		NM_017582	NP_060052	Q7Z7E8	UB2Q1_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2Q family member 1 (UBE2Q1), mRNA.	267							ATP binding|protein binding|ubiquitin-protein ligase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTTTGAAACTCTGTGATCGGT	0.572000														465			20		0	0	0.557998	0	0
CACNA1C	775	broad.mit.edu	37	12	2760901	2760901	+	Silent	SNP	G	C	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr12:2760901G>C	uc009zdu.1	+	33	4498	c.4185G>C	c.(4183-4185)cgG>cgC	p.R1395R	CACNA1C_uc001qkc.2_Silent_p.R1347R|CACNA1C_uc001qjz.2_Silent_p.R1347R|CACNA1C_uc001qkd.2_Silent_p.R1347R|CACNA1C_uc001qke.2_Silent_p.R1336R|CACNA1C_uc001qkf.2_Silent_p.R1336R|CACNA1C_uc009zdw.1_Silent_p.R1369R|CACNA1C_uc001qkg.2_Silent_p.R1334R|CACNA1C_uc001qkh.2_Silent_p.R1336R|CACNA1C_uc001qkl.2_Silent_p.R1395R|CACNA1C_uc001qkj.2_Silent_p.R1347R|CACNA1C_uc001qkk.2_Silent_p.R1347R|CACNA1C_uc001qkn.2_Silent_p.R1347R|CACNA1C_uc001qkm.2_Silent_p.R1336R|CACNA1C_uc001qko.2_Silent_p.R1367R|CACNA1C_uc001qkp.2_Silent_p.R1347R|CACNA1C_uc001qkq.2_Silent_p.R1375R|CACNA1C_uc001qku.2_Silent_p.R1347R|CACNA1C_uc001qkr.2_Silent_p.R1364R|CACNA1C_uc001qks.2_Silent_p.R1347R|CACNA1C_uc001qkt.2_Silent_p.R1347R|CACNA1C_uc009zdv.1_Silent_p.R1344R|CACNA1C_uc001qkb.2_Silent_p.R1347R|CACNA1C_uc001qki.1_Silent_p.R1083R|CACNA1C_uc010sea.1_Silent_p.R38R	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1395					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	p.N1394N(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	AGGGCATCCGGACGCTGCTGT	0.637000														205			39		0	0	0.804634	0	0
OR1J2	26740	broad.mit.edu	37	9	125273681	125273681	+	Missense_Mutation	SNP	A	G	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr9:125273681A>G	uc011lyv.2	+	0	601	c.601A>G	c.(601-603)Aca>Gca	p.T201A	OR1J2_uc004bmj.2_Missense_Mutation_p.T201A	NM_054107	NP_473448	Q8NGS2	OR1J2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 2 (OR1J2), mRNA.	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						GGTCATGTTCACAGTAGGGGT	0.517000														330			74		0	0	0.870114	0	0
PPOX	5498	broad.mit.edu	37	1	161139773	161139773	+	Missense_Mutation	SNP	G	T	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:161139773G>T	uc001fyj.2	+	8	1236	c.946G>T	c.(946-948)Gtg>Ttg	p.V316L	PPOX_uc001fyg.2_Missense_Mutation_p.V316L|PPOX_uc010pkg.1_Missense_Mutation_p.V154L|PPOX_uc001fyi.2_Missense_Mutation_p.V154L|PPOX_uc010pkh.1_Intron	NM_001122764	NP_001116236	P50336	PPOX_HUMAN	Homo sapiens protoporphyrinogen oxidase (PPOX), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	316					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GTCTGTAGCTGTGGTGAATCT	0.577000														187			19		8.28177e-16	8.77254e-16	0.557998	1	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701318	56701318	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:56701318C>T	uc010ygh.2	-	3	1366	c.1366G>A	c.(1366-1368)Gtt>Att	p.V456I		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.	456					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CGCTGGTGAACGTTCAGGTTC	0.537000														248			11		0	0	0.387290	0	0
NACA2	342538	broad.mit.edu	37	17	59668536	59668536	+	Silent	SNP	C	G	G	rs112308210		TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:59668536C>G	uc002izj.2	-	0	28	c.6G>C	c.(4-6)ccG>ccC	p.P2P		NM_199290	NP_954984	Q9H009	NACA2_HUMAN	Homo sapiens nascent polypeptide-associated complex alpha subunit 2 (NACA2), mRNA.	2					protein transport	cytoplasm|nucleus				large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					TGGCTTCGCCCGGCATTTTGT	0.577000														382			13		0	0	0.411799	0	0
FOXI3	344167	broad.mit.edu	37	2	88751603	88751603	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr2:88751603G>A	uc010ytq.1	-	1	449	c.449C>T	c.(448-450)tCg>tTg	p.S150L		NM_001135649	NP_001129121	A8MTJ6	FOXI3_HUMAN	Homo sapiens forkhead box I3 (FOXI3), mRNA.	151					epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(1)	2						GATGAGCGCCGAATACGAGTA	0.682000														33			13		0	0	0.411799	0	0
MYO3B	140469	broad.mit.edu	37	2	171323216	171323216	+	Silent	SNP	G	C	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr2:171323216G>C	uc002ufy.3	+	24	3152	c.3009G>C	c.(3007-3009)gtG>gtC	p.V1003V	MYO3B_uc002ufv.3_Silent_p.V990V|MYO3B_uc010fqb.1_Silent_p.V1003V|MYO3B_uc002ufz.3_Silent_p.V1003V|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002ugb.3_Intron	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	1003	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						AAGAATTTGTGAAAAGGTCAG	0.532000														385			59		0	0	0.870114	0	0
C3orf37	56941	broad.mit.edu	37	3	129020839	129020839	+	Missense_Mutation	SNP	G	C	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr3:129020839G>C	uc003elt.3	+	5	770	c.682G>C	c.(682-684)Gac>Cac	p.D228H	C3orf37_uc003elu.3_Missense_Mutation_p.D186H|C3orf37_uc003elv.3_Missense_Mutation_p.D228H|C3orf37_uc003elw.3_Missense_Mutation_p.D228H	NM_020187	NP_064572	Q96FZ2	CC037_HUMAN	Homo sapiens chromosome 3 open reading frame 37 (C3orf37), transcript variant 2, mRNA.	228										breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)|urinary_tract(4)	14						TAAATGGCTTGACTTTGGTGA	0.463000														455			86		0	0	0.870114	0	0
C17orf47	284083	broad.mit.edu	37	17	56620313	56620313	+	Missense_Mutation	SNP	G	T	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:56620313G>T	uc002iwq.2	-	0	1421	c.1235C>A	c.(1234-1236)cCc>cAc	p.P412H	SEPT4_uc010wny.2_5'Flank|SEPT4_uc010wnx.2_5'Flank	NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN	Homo sapiens chromosome 17 open reading frame 47 (C17orf47), mRNA.	412										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGGAGGCAAGGGCCTAGGGGT	0.547000														567			58		1.19403e-26	1.31851e-26	0.870114	1	0
ANXA2	302	broad.mit.edu	37	9	33625225	33625225	+	Silent	SNP	C	T	T	rs112536351		TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr9:33625225C>T	uc010mjx.3	+	0	1003	c.954C>T	c.(952-954)taC>taT	p.Y318Y	DJ439583_uc022bfp.1_5'Flank|DJ439557_uc022bfq.1_5'Flank|DJ439530_uc022bfr.1_5'Flank|DJ439561_uc022bfs.1_5'Flank	NM_004039	NP_004030	P07355	ANXA2_HUMAN	Homo sapiens annexin A2 (ANXA2), transcript variant 3, mRNA.	318					angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity			kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)	TGTACTATTACATCCAGCAAG	0.498000														202			9		0	0	0.361761	0	0
DMAP1	55929	broad.mit.edu	37	1	44680376	44680376	+	Splice_Site	SNP	G	C	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:44680376G>C	uc001clq.1	+	4	278	c.198_splice	c.e4-1	p.K66_splice	DMAP1_uc010okq.1_Splice_Site_p.G92_splice|DMAP1_uc010okr.1_Splice_Site_p.K66_splice|DMAP1_uc010oks.1_Splice_Site_p.K66_splice|DMAP1_uc010okt.1_Splice_Site_p.K66_splice|DMAP1_uc001clr.1_Splice_Site_p.K66_splice|DMAP1_uc001cls.1_Splice_Site_p.K66_splice|DMAP1_uc010oku.1_Splice_Site_p.K66_splice	NM_001034024	NP_061973	Q9NPF5	DMAP1_HUMAN	Homo sapiens DNA methyltransferase 1 associated protein 1 (DMAP1), transcript variant 3, mRNA.	66					DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					CCCTGCCAGGGATGCACCCCC	0.537000														390			58		0	0	0.870114	0	0
CELA3B	23436	broad.mit.edu	37	1	22331987	22331987	+	Silent	SNP	C	T	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:22331987C>T	uc001bfl.3	+	2	196	c.177C>T	c.(175-177)ggC>ggT	p.G59G	CELA3B_uc009vqf.3_Silent_p.G58G	NM_005747	NP_005738	P08861	CEL3B_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 3A (CELA3A), mRNA.	59	Peptidase S1.				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						ACACGTGTGGCGGTAGCCTCA	0.622000											OREG0013211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		504			51		0	0	0.870114	0	0
ARHGAP15	55843	broad.mit.edu	37	2	143959733	143959733	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr2:143959733C>T	uc002tvm.4	+	2	347	c.196C>T	c.(196-198)Cat>Tat	p.H66Y	ARHGAP15_uc010zbl.1_Missense_Mutation_p.H66Y	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN	Homo sapiens Rho GTPase activating protein 15 (ARHGAP15), mRNA.	66					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	Rac GTPase activator activity|protein binding			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TCATTCACAGCATATCTTGAA	0.303000														306			66		0	0	0.870114	0	0
BCAM	4059	broad.mit.edu	37	19	45315574	45315574	+	Missense_Mutation	SNP	A	C	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:45315574A>C	uc002ozu.3	+	2	403	c.359A>C	c.(358-360)gAg>gCg	p.E120A	BCAM_uc002ozt.1_Missense_Mutation_p.E120A	NM_005581	NP_005572	P50895	BCAM_HUMAN	Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA.	120	Ig-like V-type 1.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GTGGGCGACGAGCGAGACTAC	0.682000														208			13		0	0	0.411799	0	0
C8orf73	642475	broad.mit.edu	37	8	144650380	144650380	+	Missense_Mutation	SNP	G	T	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:144650380G>T	uc010mff.3	-	10	1740	c.1696C>A	c.(1696-1698)Ctg>Atg	p.L566M		NM_001100878	NP_001094348	A6NGR9	CH073_HUMAN	Homo sapiens chromosome 8 open reading frame 73 (C8orf73), mRNA.	566							binding			endometrium(1)|kidney(1)|lung(2)|ovary(2)	6	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AACTCCTCCAGCAGGCCCCAG	0.652000														95			16		1.00905e-13	1.06098e-13	0.575678	1	0
NFKBIA	4792	broad.mit.edu	37	14	35873637	35873637	+	Missense_Mutation	SNP	C	G	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr14:35873637C>G	uc001wtf.4	-	0	324	c.214G>C	c.(214-216)Gag>Cag	p.E72Q		NM_020529	NP_065390	P25963	IKBA_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha (NFKBIA), mRNA.	72					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|negative regulation of DNA binding|negative regulation of NF-kappaB transcription factor activity|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of transcription from RNA polymerase II promoter|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	I-kappaB/NF-kappaB complex|cytosol|nucleus|plasma membrane	NF-kappaB binding|identical protein binding|nuclear localization sequence binding|ubiquitin protein ligase binding			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)		TCCCCGTCCTCGGTGAGCTGC	0.741000														71			11		0	0	0.361761	0	0
SNX24	28966	broad.mit.edu	37	5	122272452	122272452	+	Missense_Mutation	SNP	G	C	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr5:122272452G>C	uc011cwo.2	+	1	253	c.84G>C	c.(82-84)atG>atC	p.M28I	SNX24_uc003ktf.2_Missense_Mutation_p.M28I|SNX24_uc010jcy.3_Missense_Mutation_p.M28I	NM_014035	NP_054754	Q9Y343	SNX24_HUMAN	Homo sapiens sorting nexin 24 (SNX24), mRNA.	28	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			lung(5)	5		Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)		AAGTGCTAATGAATGGAAGAA	0.313000														172			49		0	0	0.870114	0	0
FRYL	285527	broad.mit.edu	37	4	48605373	48605373	+	Missense_Mutation	SNP	C	G	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr4:48605373C>G	uc003gyh.1	-	11	1472	c.867G>C	c.(865-867)ttG>ttC	p.L289F	FRYL_uc003gyk.3_Missense_Mutation_p.L289F	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CAAAATTTTTCAAACAGGGAA	0.289000														318			46		0	0	0.870114	0	0
DYM	54808	broad.mit.edu	37	18	46783384	46783384	+	Missense_Mutation	SNP	T	A	A	rs61758455		TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr18:46783384T>A	uc002ldi.1	-	12	1821	c.1456A>T	c.(1456-1458)Atc>Ttc	p.I486F	DYM_uc010xdf.1_Missense_Mutation_p.I296F|DYM_uc002ldj.3_Missense_Mutation_p.I308F|DYM_uc010dov.1_Missense_Mutation_p.I36F	NM_017653	NP_060123	Q7RTS9	DYM_HUMAN	Homo sapiens dymeclin (DYM), mRNA.	486						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						ATTTACCTGATGATCCTCTGG	0.403000														181			34		0	0	0.779181	0	0
SLC2A13	114134	broad.mit.edu	37	12	40499348	40499348	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr12:40499348G>A	uc010skm.2	-	0	314	c.263C>T	c.(262-264)tCc>tTc	p.S88F	SLC2A13_uc001rmf.3_Missense_Mutation_p.S88F	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 13 (SLC2A13), mRNA.	88						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				GCCCAGCGCGGAGAAGACGGC	0.721000										HNSCC(50;0.14)				34			6		0	0	0.248553	0	0
LOC399815	399815	broad.mit.edu	37	10	124647797	124647797	+	Missense_Mutation	SNP	A	T	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr10:124647797A>T	uc001lgu.3	+	6	1064	c.166A>T	c.(166-168)Att>Ttt	p.I56F	LOC399815_uc010qua.1_Missense_Mutation_p.I18F					Homo sapiens chromosome 10 open reading frame 88 pseudogene (LOC399815), non-coding RNA.																		TTGTATTCCTATTGAAGAGCA	0.368000														169			6		0	0	0.278610	0	0
abParts	0	broad.mit.edu	37	14	107122308	107122308	+	RNA	SNP	G	A	A	rs2583345	by1000genomes	TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr14:107122308G>A	uc021ser.1	-	85		c.4010C>T								Parts of antibodies, mostly variable regions.																		AGTAGTTAACGGAAGGTGAAT	0.552000														429			12		0	0	0.387290	0	0
CDCP2	200008	broad.mit.edu	37	1	54605517	54605517	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:54605517delT	uc001cwv.1	-	3	1874	c.1026delA	c.(1024-1026)ccafs	p.P342fs		NM_201546	NP_963840	Q5VXM1	CDCP2_HUMAN	Homo sapiens CUB domain containing protein 2 (CDCP2), mRNA.	342	CUB 3.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						AGGTCACGGGTGGTGGCAGGT	0.632													---	270	---	---	43	---					
KCNC4	3749	broad.mit.edu	37	1	110768648	110768664	+	Frame_Shift_Del	DEL	CTGGCCTCACCCAACCC	-	-			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:110768648_110768664delCTGGCCTCACCCAACCC	uc009wfr.3	+	2	2453_2469	c.1667_1683delCTGGCCTCACCCAACCC	c.(1666-1683)gctggcctcacccaacccfs	p.A556fs	KCNC4_uc001dzh.3_Frame_Shift_Del_p.A556fs|KCNC4_uc001dzi.3_Non-coding_Transcript|KCNC4_uc001dzg.3_Frame_Shift_Del_p.A556fs	NM_001039574	NP_001034663	Q03721	KCNC4_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 4 (KCNC4), transcript variant 3, mRNA.	556					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GAGGAGGGAGCTGGCCTCACCCAACCCCTGGCCTCCT	0.641													---	300	---	---	51	---					
OTUD7B	56957	broad.mit.edu	37	1	149920861	149920869	+	Splice_Site	DEL	CCTGGCTTA	-	-			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:149920861_149920869delCCTGGCTTA	uc001etn.3	-	10	1594	c.1238_splice	c.e10+1	p.S413_splice		NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	Homo sapiens OTU domain containing 7B (OTUD7B), mRNA.	413	Catalytic.				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|cysteine-type peptidase activity|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			AAAGACTAGGCCTGGCTTACCTGGCCAAT	0.498													---	353	---	---	26	---					
RPL31P11	641311	broad.mit.edu	37	1	161654767	161654768	+	RNA	INS	-	C	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:161654767_161654768insC	uc001gbc.3	-	0		c.275_276insG								Homo sapiens ribosomal protein L31 pseudogene 11 (RPL31P11), non-coding RNA.																		TATGGGACATTCTTATTCCTTT	0.465													---	192	---	---	7	---					
IPO9	55705	broad.mit.edu	37	1	201843998	201844000	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:201843998_201844000delGAG	uc001gwz.3	+	21	2922_2924	c.2872_2874delGAG	c.(2872-2874)gagdel	p.E962del		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	Homo sapiens importin 9 (IPO9), mRNA.	962					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	p.E962D(1)		cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						ggaggaggaagaggaggaggagg	0.443													---	602	---	---	8	---					
PIK3C2B	5287	broad.mit.edu	37	1	204438072	204438072	+	Frame_Shift_Del	DEL	G	-	-	rs115574296	by1000genomes	TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:204438072delG	uc001haw.3	-	2	1338	c.859delC	c.(859-861)cgcfs	p.R287fs	PIK3C2B_uc010pqv.2_Frame_Shift_Del_p.R287fs|PIK3C2B_uc001hax.1_Frame_Shift_Del_p.R287fs|PIK3C2B_uc009xbd.1_Non-coding_Transcript	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	287	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	p.R287fs*92(2)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GCATAGGTGCGGGGGGGCACC	0.622													---	699	---	---	8	---					
RANBP2	5903	broad.mit.edu	37	2	109371629	109371630	+	Splice_Site	INS	-	TC	TC			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr2:109371629_109371630insTC	uc002tem.4	+	17	2509	c.2383_splice	c.e17-2	p.Y795_splice		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	795					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TATTTTTTTTTAGTATTCTCCC	0.312													---	953	---	---	8	---					
HIBCH	26275	broad.mit.edu	37	2	191161629	191161629	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr2:191161629delT	uc002uru.3	-	2	424	c.129delA	c.(127-129)aaafs	p.K43fs	HIBCH_uc002urv.3_Frame_Shift_Del_p.K43fs	NM_014362	NP_055177	Q6NVY1	HIBCH_HUMAN	Homo sapiens 3-hydroxyisobutyryl-CoA hydrolase (HIBCH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	43					branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			CCGTGCAACCTTTTTTTTCCA	0.353													---	340	---	---	7	---					
ERC2	26059	broad.mit.edu	37	3	55733470	55733472	+	In_Frame_Del	DEL	TGG	-	-			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr3:55733470_55733472delTGG	uc021wzo.1	-	14	2921_2923	c.2781_2783delCCA	c.(2779-2784)caccat>cat	p.927_928HH>H	ERC2_uc003dhq.1_Non-coding_Transcript|ERC2_uc003dhr.1_In_Frame_Del_p.923_924HH>H	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	927	Poly-His.					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		gtggtggtgatggtggtggtggt	0.502													---	1103	---	---	11	---					
VGLL3	389136	broad.mit.edu	37	3	87027857	87027859	+	In_Frame_Del	DEL	CTC	-	-			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr3:87027857_87027859delCTC	uc003dqn.3	-	1	584_586	c.220_222delGAG	c.(220-222)gagdel	p.E74del		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	Homo sapiens vestigial like 3 (Drosophila) (VGLL3), mRNA.	74					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GCTGGtctttctcctcctcctcc	0.502													---	324	---	---	7	---					
GOLIM4	27333	broad.mit.edu	37	3	167747642	167747644	+	In_Frame_Del	DEL	CTG	-	-	rs61743912	byFrequency	TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr3:167747642_167747644delCTG	uc011bpe.1	-	9	1701_1703	c.1357_1359delCAG	c.(1357-1359)cagdel	p.Q453del	GOLIM4_uc003ffe.2_In_Frame_Del_p.Q453del|GOLIM4_uc011bpf.1_In_Frame_Del_p.Q425del|GOLIM4_uc011bpg.1_In_Frame_Del_p.Q425del	NM_014498	NP_055313	O00461	GOLI4_HUMAN	Homo sapiens golgi integral membrane protein 4 (GOLIM4), mRNA.	453	Gln-rich.|Glu-rich.				transport	Golgi cisterna membrane|Golgi lumen|cis-Golgi network|endocytic vesicle|endosome membrane|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTCTTGCCACctgctgctgctgc	0.640													---	289	---	---	7	---					
FAT4	79633	broad.mit.edu	37	4	126408614	126408614	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr4:126408614delA	uc003ifj.4	+	15	12931	c.12931delA	c.(12931-12933)aaafs	p.K4311fs	FAT4_uc011cgp.2_Frame_Shift_Del_p.K2552fs|FAT4_uc003ifi.1_Frame_Shift_Del_p.K1789fs	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4311	Laminin G-like 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCTAATTGGGAAAAATGGAAC	0.403													---	677	---	---	8	---					
PPARGC1B	133522	broad.mit.edu	37	5	149216457	149216459	+	In_Frame_Del	DEL	GGA	-	-			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr5:149216457_149216459delGGA	uc003lrc.3	+	7	2530_2532	c.2439_2441delGGA	c.(2437-2442)ggggag>ggg	p.E818del	PPARGC1B_uc003lrb.2_In_Frame_Del_p.E818del|PPARGC1B_uc003lrd.3_In_Frame_Del_p.E779del|PPARGC1B_uc021yfr.1_In_Frame_Del_p.E754del|PPARGC1B_uc003lre.1_In_Frame_Del_p.E797del|PPARGC1B_uc003lrf.3_In_Frame_Del_p.E797del	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA.	818	Glu-rich.				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|RNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity	p.E818G(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			aggaagaaggggaggaggaggag	0.606													---	539	---	---	13	---					
GCM1	8521	broad.mit.edu	37	6	52996784	52996811	+	Splice_Site	DEL	TAACTAACTCAAAAATCCAACCTGGAAA	-	-			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr6:52996784_52996811delTAACTAACTCAAAAATCCAACCTGGAAA	uc003pbp.3	-	4	650	c.441_splice	c.e4+1	p.Q147_splice	GCM1_uc010jzr.2_Stop_Codon_Del	NM_003643	NP_003634	Q9NP62	GCM1_HUMAN	Homo sapiens glial cells missing homolog 1 (Drosophila) (GCM1), mRNA.	147						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.?(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					AACTCTCACGTAACTAACTCAAAAATCCAACCTGGAAAAATATAAAGC	0.518													---	161	---	---	8	---					
KLHL38	340359	broad.mit.edu	37	8	124664765	124664792	+	Frame_Shift_Del	DEL	GCTGGGGGCCAACTGGCTCTGCAAGTAC	-	-	rs7387544	by1000genomes	TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:124664765_124664792delGCTGGGGGCCAACTGGCTCTGCAAGTAC	uc003yqs.1	-	0	399_426	c.375_402delGTACTTGCAGAGCCAGTTGGCCCCCAGC	c.(373-402)tcgtacttgcagagccagttggcccccagcfs	p.S125fs		NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN	Homo sapiens kelch-like 38 (Drosophila) (KLHL38), mRNA.	125								p.S134R(2)|p.S125L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CCAGGCAGTTGCTGGGGGCCAACTGGCTCTGCAAGTACGAGGAGCAGG	0.575													---	279	---	---	15	---					
NLRP6	171389	broad.mit.edu	37	11	281553	281555	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr11:281553_281555delGAG	uc010qvs.2	+	3	1819_1821	c.1819_1821delGAG	c.(1819-1821)gagdel	p.E611del	NLRP6_uc010qvt.2_In_Frame_Del_p.E611del	NM_138329	NP_612202	P59044	NALP6_HUMAN	Homo sapiens NLR family, pyrin domain containing 6 (NLRP6), mRNA.	611	Poly-Glu.					cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGAAGAGCCAGAGGAGGAGGAGG	0.670													---	563	---	---	7	---					
RARRES3	5920	broad.mit.edu	37	11	63313709	63313709	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr11:63313709delA	uc001nxf.4	+	3	544	c.476delA	c.(475-477)caafs	p.Q159fs		NM_004585	NP_004576	Q9UL19	TIG3_HUMAN	Homo sapiens retinoic acid receptor responder (tazarotene induced) 3 (RARRES3), mRNA.	159					lipid catabolic process|negative regulation of cell proliferation		hydrolase activity			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						AGGAGATACCAAAAAAAAGCG	0.537													---	760	---	---	7	---					
SSH3	54961	broad.mit.edu	37	11	67076881	67076899	+	Frame_Shift_Del	DEL	TTGAACATGGCCCGGGAGA	-	-	rs74859815	by1000genomes	TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr11:67076881_67076899delTTGAACATGGCCCGGGAGA	uc001okj.3	+	10	1253_1271	c.1075_1093delTTGAACATGGCCCGGGAGA	c.(1075-1095)ttgaacatggcccgggagattfs	p.L359fs	SSH3_uc001okk.3_Non-coding_Transcript|SSH3_uc001okl.3_Frame_Shift_Del_p.L213fs	NM_017857	NP_060327	Q8TE77	SSH3_HUMAN	Homo sapiens slingshot homolog 3 (Drosophila) (SSH3), mRNA.	359	Tyrosine-protein phosphatase.				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CACCCACATCTTGAACATGGCCCGGGAGATTGACAACTT	0.635													---	415	---	---	24	---					
MRPL48	51642	broad.mit.edu	37	11	73555970	73555980	+	Frame_Shift_Del	DEL	CCCAGTATGTT	-	-			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr11:73555970_73555980delCCCAGTATGTT	uc001ouh.4	+	4	420_430	c.320_330delCCCAGTATGTT	c.(319-330)gcccagtatgttfs	p.A107fs	MRPL48_uc009ytt.3_Frame_Shift_Del_p.A8fs|MRPL48_uc010rri.2_Frame_Shift_Del_p.A89fs	NM_016055	NP_057139	Q96GC5	RM48_HUMAN	Homo sapiens mitochondrial ribosomal protein L48 (MRPL48), nuclear gene encoding mitochondrial protein, mRNA.	107					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			kidney(1)	1						GAGAGTTATGCCCAGTATGTTCACAACCTCT	0.403													---	241	---	---	40	---					
PHC1	1911	broad.mit.edu	37	12	9087018	9087032	+	In_Frame_Del	DEL	ATTCTCACCCACATC	-	-			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr12:9087018_9087032delATTCTCACCCACATC	uc001qvd.3	+	9	2353_2367	c.2197_2211delATTCTCACCCACATC	c.(2197-2211)attctcacccacatcdel	p.ILTHI733del	PHC1_uc001qve.3_In_Frame_Del_p.ILTHI733del	NM_004426	NP_004417	P78364	PHC1_HUMAN	Homo sapiens polyhomeotic homolog 1 (Drosophila) (PHC1), mRNA.	733					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						GAAGCCCCAGATTCTCACCCACATCATTGAAGGCT	0.544													---	507	---	---	8	---					
SMARCC2	6601	broad.mit.edu	37	12	56558379	56558381	+	In_Frame_Del	DEL	AGG	-	-			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr12:56558379_56558381delAGG	uc001skb.3	-	26	3380_3382	c.3274_3276delCCT	c.(3274-3276)cctdel	p.P1092del	SMARCC2_uc001skd.3_Intron|SMARCC2_uc001ska.3_Intron|SMARCC2_uc001skc.3_Intron|SMARCC2_uc010sqf.2_Intron	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA.	1092	Pro-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TGGATGGAGCAGGAGGAGGAGGA	0.591													---	216	---	---	7	---					
SNRNP35	11066	broad.mit.edu	37	12	123950763	123950764	+	Frame_Shift_Del	DEL	GA	-	-			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr12:123950763_123950764delGA	uc021rfv.1	+	1	741_742	c.691_692delGA	c.(691-693)gagfs	p.E231fs	SNRNP35_uc001ufb.1_Frame_Shift_Del_p.E226fs|SNRNP35_uc001ufc.1_Intron|SNRNP35_uc021rfw.1_Frame_Shift_Del_p.E226fs	NM_180699	NP_073208	Q16560	U1SBP_HUMAN	Homo sapiens small nuclear ribonucleoprotein 35kDa (U11/U12) (SNRNP35), transcript variant 3, mRNA.	226	Arg-rich.				mRNA processing	U12-type spliceosomal complex	RNA binding|nucleotide binding	p.E226*(1)		NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						CAATGACTGGGAGAGAGAGAGG	0.554													---	344	---	---	7	---					
COCH	1690	broad.mit.edu	37	14	31355263	31355270	+	Frame_Shift_Del	DEL	GCTGTACA	-	-			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr14:31355263_31355270delGCTGTACA	uc001wqr.2	+	10	1302_1309	c.1222_1229delGCTGTACA	c.(1222-1230)gctgtacagfs	p.A408fs	COCH_uc001wqp.2_Frame_Shift_Del_p.A408fs|COCH_uc001wqq.4_Frame_Shift_Del_p.A408fs|LOC100506071_uc001wqs.3_Non-coding_Transcript|COCH_uc001wqt.1_Frame_Shift_Del_p.A259fs	NM_004086	NP_004077	O43405	COCH_HUMAN	Homo sapiens coagulation factor C homolog, cochlin (Limulus polyphemus) (COCH), transcript variant 2, mRNA.	408	VWFA 2.				sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		CAAGATAGCTGCTGTACAGTTTACTTAT	0.442													---	417	---	---	38	---					
FOXN3	1112	broad.mit.edu	37	14	89629149	89629151	+	In_Frame_Del	DEL	GAG	-	-	rs139532153		TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr14:89629149_89629151delGAG	uc001xxo.4	-	6	1217_1219	c.1080_1082delCTC	c.(1078-1083)tcctca>tca	p.360_361SS>S	FOXN3_uc001xxn.4_In_Frame_Del_p.338_339SS>S|FOXN3_uc010atk.3_In_Frame_Del_p.338_339SS>S	NM_001085471	NP_001078940	O00409	FOXN3_HUMAN	Homo sapiens forkhead box N3 (FOXN3), transcript variant 1, mRNA.	360					DNA damage checkpoint|G2 phase of mitotic cell cycle|embryo development|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTCGTCGGCTGAGGAGGAGGAGG	0.650													---	274	---	---	8	---					
CHGA	1113	broad.mit.edu	37	14	93397924	93397926	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr14:93397924_93397926delGAG	uc001ybc.4	+	5	945_947	c.685_687delGAG	c.(685-687)gagdel	p.E236del	CHGA_uc001ybd.4_Intron	NM_001275	NP_001266	P10645	CMGA_HUMAN	Homo sapiens chromogranin A (parathyroid secretory protein 1) (CHGA), mRNA.	236					regulation of blood pressure	extracellular region|stored secretory granule				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		AAAGAGAgaagaggaggaggagg	0.645													---	219	---	---	7	---					
DDX24	57062	broad.mit.edu	37	14	94545821	94545823	+	In_Frame_Del	DEL	CCT	-	-			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr14:94545821_94545823delCCT	uc001ycj.3	-	1	365_367	c.266_268delAGG	c.(265-270)gaggga>gga	p.E89del	DDX24_uc010twq.2_In_Frame_Del_p.E46del|DDX24_uc010twr.2_Intron|IFI27L1_uc001ycl.3_5'Flank|IFI27L1_uc001yck.3_5'Flank	NM_020414	NP_065147	Q9GZR7	DDX24_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 24 (DDX24), mRNA.	89	Poly-Glu.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		CTAGACTTTCCCTCCTCCTCCTC	0.443													---	818	---	---	9	---					
NPIPL2	440348	broad.mit.edu	37	16	74425400	74425402	+	In_Frame_Del	DEL	CAA	-	-			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr16:74425400_74425402delCAA	uc010vmt.1	+	5	572_574	c.571_573delCAA	c.(571-573)caadel	p.Q192del				C9J9U8	C9J9U8_HUMAN	RecName: Full=Nuclear pore complex-interacting protein-like 2; Flags: Precursor;	253										endometrium(5)|kidney(3)|lung(1)|prostate(8)	17						TCCTCCAACTCAACAACATTCTA	0.517													---	473	---	---	11	---					
RNF135	84282	broad.mit.edu	37	17	29325974	29325984	+	Frame_Shift_Del	DEL	GCCAGCTCTCT	-	-			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:29325974_29325984delGCCAGCTCTCT	uc002hfz.3	+	4	1200_1210	c.1064_1074delGCCAGCTCTCT	c.(1063-1074)agccagctctctfs	p.S355fs	RNF135_uc010csm.3_3'UTR|RNF135_uc002hga.3_3'UTR|RNF135_uc002hgb.3_3'UTR	NM_032322	NP_115698	Q8IUD6	RN135_HUMAN	Homo sapiens ring finger protein 135 (RNF135), transcript variant 1, mRNA.	355	B30.2/SPRY.				innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response	cytosol	protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				AAGGGGACTAGCCAGCTCTCTGCATGGCACA	0.573													---	308	---	---	35	---					
WIPF2	147179	broad.mit.edu	37	17	38421174	38421176	+	In_Frame_Del	DEL	CTC	-	-	rs151273872	byFrequency	TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:38421174_38421176delCTC	uc002hug.1	+	4	986_988	c.746_748delCTC	c.(745-750)gctcct>gct	p.P254del	WIPF2_uc002huh.1_In_Frame_Del_p.P104del|WIPF2_uc010cww.1_In_Frame_Del_p.P104del|WIPF2_uc002hui.1_In_Frame_Del_p.P254del|WIPF2_uc010cwx.1_Intron|WIPF2_uc010cwy.1_In_Frame_Del_p.P254del	NM_133264	NP_573571	Q8TF74	WIPF2_HUMAN	Homo sapiens WAS/WASL interacting protein family, member 2 (WIPF2), mRNA.	254	Poly-Pro.					cytoplasm|cytoskeleton	actin binding	p.P253S(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						CAGTCTCTGGCTCCTCCTCCTCC	0.596										HNSCC(43;0.11)			---	1163	---	---	7	---					
SEH1L	81929	broad.mit.edu	37	18	12986927	12986929	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr18:12986927_12986929delTCC	uc002krq.3	+	8	1275_1277	c.1137_1139delTCC	c.(1135-1140)cttcct>ctt	p.P385del	SEH1L_uc002krr.3_3'UTR	NM_001013437	NP_001013455	Q96EE3	SEH1_HUMAN	Homo sapiens SEH1-like (S. cerevisiae) (SEH1L), transcript variant 1, mRNA.	0					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mRNA transport|mitotic metaphase plate congression|mitotic prometaphase|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						CCCAGCTCCTtcctcctcctcct	0.522													---	284	---	---	7	---					
ZNF812	729648	broad.mit.edu	37	19	9801486	9801489	+	Frame_Shift_Del	DEL	AGTG	-	-			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:9801486_9801489delAGTG	uc021uop.1	-	5	1336_1339	c.690_693delCACT	c.(688-693)ttcactfs	p.F230fs	ZNF812_uc010xkx.2_Frame_Shift_Del_p.F126fs	NM_001199814	NP_001186743	P0C7V5	ZN812_HUMAN	Homo sapiens zinc finger protein 812 (ZNF812), mRNA.	230					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						GAGAAAAATTAGTGAAGGATTTCC	0.353													---	186	---	---	19	---					
SPRED3	399473	broad.mit.edu	37	19	38882864	38882866	+	In_Frame_Del	DEL	CCT	-	-			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:38882864_38882866delCCT	uc002oim.3	+	2	363_365	c.359_361delCCT	c.(358-363)ccctcc>ccc	p.S128del	SPRED3_uc002oil.1_In_Frame_Del_p.S128del	NM_001042522	NP_001035987	Q2MJR0	SPRE3_HUMAN	Homo sapiens sprouty-related, EVH1 domain containing 3 (SPRED3), transcript variant 1, mRNA.	128	Ser-rich.				multicellular organismal development					central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCACTCAccccctcctcctcctc	0.645													---	128	---	---	9	---					
SLC8A2	6543	broad.mit.edu	37	19	47935681	47935683	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:47935681_47935683delTCC	uc010ele.3	-	7	2146_2148	c.2130_2132delGGA	c.(2128-2133)gaggac>gac	p.E710del	SLC8A2_uc002pgx.3_In_Frame_Del_p.E710del|SLC8A2_uc010xyq.2_In_Frame_Del_p.E466del|SLC8A2_uc010xyr.2_In_Frame_Del_p.E173del			Q9UPR5	NAC2_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA.	710					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CCGGGACCCGTCCTCCTCCTCCT	0.616													---	759	---	---	21	---					
EPS8L1	54869	broad.mit.edu	37	19	55597500	55597501	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:55597500_55597501insA	uc002qis.4	+	15	1694_1695	c.1590_1591insA	c.(1588-1593)aacatcfs	p.N530fs	EPS8L1_uc010ess.1_Frame_Shift_Ins_p.N544fs|EPS8L1_uc010yfr.2_Frame_Shift_Ins_p.N466fs|EPS8L1_uc002qiu.3_Frame_Shift_Ins_p.N403fs|EPS8L1_uc002qiv.3_Frame_Shift_Ins_p.N208fs|EPS8L1_uc002qiw.3_Frame_Shift_Ins_p.N309fs	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	Homo sapiens EPS8-like 1 (EPS8L1), transcript variant 1, mRNA.	530	SH3.					cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		TGCCCTACAACATCCTGACACC	0.629													---	492	---	---	22	---					
DNAAF3	352909	broad.mit.edu	37	19	55670960	55670961	+	In_Frame_Ins	INS	-	AGA	AGA			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:55670960_55670961insAGA	uc002qjl.1	-	10	1381_1382	c.1379_1380insTCT	c.(1378-1380)ctc>ctTCTc	p.460_460L>LL	TNNI3_uc002qjg.4_5'Flank|TNNI3_uc010yft.2_5'Flank|DNAAF3_uc002qjh.1_In_Frame_Ins_p.208_208L>LL|DNAAF3_uc002qji.1_In_Frame_Ins_p.393_393L>LL|DNAAF3_uc002qjj.1_In_Frame_Ins_p.440_440L>LL|DNAAF3_uc002qjk.1_In_Frame_Ins_p.339_339L>LL	NM_178837	NP_849159	Q8N9W5	CS051_HUMAN	Homo sapiens chromosome 19 open reading frame 51 (C19orf51), mRNA.	393																	GCTCAGGGATGAGAAGATGGAC	0.599													---	813	---	---	9	---					
SF3A1	10291	broad.mit.edu	37	22	30742328	30742330	+	In_Frame_Del	DEL	CTG	-	-	rs141985009	byFrequency	TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr22:30742328_30742330delCTG	uc003ahl.3	-	2	496_498	c.364_366delCAG	c.(364-366)cagdel	p.Q122del	SF3A1_uc021wnt.1_Intron	NM_005877	NP_005868	Q15459	SF3A1_HUMAN	Homo sapiens splicing factor 3a, subunit 1, 120kDa (SF3A1), transcript variant 1, mRNA.	122	Poly-Gln.				nuclear mRNA 3'-splice site recognition	U2-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	RNA binding|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GCTGGGTGGTCTGCTGCTGCTGC	0.606													---	677	---	---	8	---					
TRPC5	7224	broad.mit.edu	37	X	111090417	111090418	+	Frame_Shift_Ins	INS	-	C	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrX:111090417_111090418insC	uc004epl.1	-	5	2543_2544	c.1624_1625insG	c.(1624-1626)tatfs	p.Y542fs	TRPC5_uc004epm.1_Frame_Shift_Ins_p.Y542fs	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	542					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TCTGGTTTCATAATAGAAGTAA	0.441													---	486	---	---	7	---					
PASD1	139135	broad.mit.edu	37	X	150817142	150817144	+	In_Frame_Del	DEL	GCT	-	-			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrX:150817142_150817144delGCT	uc004fev.4	+	8	1017_1019	c.685_687delGCT	c.(685-687)gctdel	p.A236del		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	236	Poly-Ala.					nucleus	signal transducer activity	p.A229A(2)|p.A235D(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGAACCCgctgctgctgctg	0.433													---	518	---	---	8	---					
