Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
PKD1	5310	broad.mit.edu	37	16	2147949	2147949	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr16:2147949G>A	ENST00000262304.4	-	31	10295	c.10087C>T	c.(10087-10089)Cag>Tag	p.Q3363*	PKD1_ENST00000423118.1_Nonsense_Mutation_p.Q3363*	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3363					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCCAGCACCTGCTGCCCGGCA	0.662000													3	31					0	0	0.115264	0	0
PLAC1L	0	broad.mit.edu	37	11	59812148	59812148	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr11:59812148T>C	ENST00000278855.2	+	3	433	c.248T>C	c.(247-249)gTt>gCt	p.V83A	PLAC1L_ENST00000532905.1_Missense_Mutation_p.V52A	NM_173801.3	NP_776162.2	Q86WS3	PLACL_HUMAN		83						extracellular region				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						TCCTAGGTAGTTTCTGAGGAA	0.398000													28	135					0	0	0.681144	0	0
CROCCP3	0	broad.mit.edu	37	1	16809784	16809784	+	RNA	SNP	T	T	G			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr1:16809784T>G	ENST00000263511.4	-	0	2001					NR_023386.1																						CCCGGCACCTTCTCAGGAGCT	0.632000													2	10					0	0	0.115264	0	0
ERBB3	2065	broad.mit.edu	37	12	56495733	56495733	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr12:56495733C>T	ENST00000267101.3	+	28	4363	c.3923C>T	c.(3922-3924)gCc>gTc	p.A1308V	ERBB3_ENST00000553131.1_Missense_Mutation_p.A549V|ERBB3_ENST00000549832.1_Missense_Mutation_p.A428V|ERBB3_ENST00000450146.2_Missense_Mutation_p.A665V|ERBB3_ENST00000415288.2_Missense_Mutation_p.A1249V|RP11-603J24.9_ENST00000548861.1_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1308					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GTCCATTATGCCCGCCTAAAA	0.527000													5	341					0	0	0.217242	0	0
MAST4	375449	broad.mit.edu	37	5	66448610	66448610	+	Silent	SNP	G	G	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr5:66448610G>A	ENST00000404260.3	+	25	3758	c.3450G>A	c.(3448-3450)tcG>tcA	p.S1150S	MAST4_ENST00000405643.1_Silent_p.S968S|MAST4_ENST00000261569.7_Silent_p.S953S|MAST4_ENST00000403625.2_Silent_p.S1147S|MAST4_ENST00000403666.1_Silent_p.S958S			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1150	PDZ.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TCCACAGTTCGGGGAAGAACT	0.542000													7	154					0	0	0.278610	0	0
HCN3	57657	broad.mit.edu	37	1	155257756	155257756	+	Silent	SNP	G	G	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr1:155257756G>A	ENST00000368358.3	+	8	1835	c.1827G>A	c.(1825-1827)gcG>gcA	p.A609A	HCN3_ENST00000496230.1_3'UTR	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	609						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.A609A(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGGTACATGCGCCCCTTCAGG	0.627000													8	95					0	0	0.361761	0	0
C3	718	broad.mit.edu	37	19	6697496	6697496	+	Silent	SNP	G	G	A	rs140780068		TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr19:6697496G>A	ENST00000245907.6	-	21	2747	c.2655C>T	c.(2653-2655)acC>acT	p.T885T		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	885					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GGATGGTTACGGTCTGCTGGT	0.587000													9	117					0	0	0.307466	0	0
FAM154A	158297	broad.mit.edu	37	9	18928507	18928507	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr9:18928507C>T	ENST00000380534.4	-	4	1247	c.968G>A	c.(967-969)cGa>cAa	p.R323Q	FAM154A_ENST00000542071.1_Missense_Mutation_p.R131Q|FAM154A_ENST00000380530.1_3'UTR	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	323										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		AAGTGCAGGTCGGCAGGACTG	0.562000													9	147					0	0	0.335167	0	0
MTA2	9219	broad.mit.edu	37	11	62361480	62361480	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr11:62361480A>C	ENST00000278823.2	-	18	2263	c.1874T>G	c.(1873-1875)aTg>aGg	p.M625R	MTA2_ENST00000527204.1_Missense_Mutation_p.M452R|MTA2_ENST00000524902.1_Missense_Mutation_p.M452R	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	625					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						AGCTCGCCGCATTTCCAGATG	0.592000											OREG0021027	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	237					0	0	0.479597	0	0
MCM9	254394	broad.mit.edu	37	6	119245149	119245149	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr6:119245149A>G	ENST00000316316.6	-	3	734	c.448T>C	c.(448-450)Tgc>Cgc	p.C150R	MCM9_ENST00000316068.3_Missense_Mutation_p.C150R	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	150					DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		ACATGCTTGCATTTGTTACAC	0.458000													27	350					0	0	0.681144	0	0
MSRA	4482	broad.mit.edu	37	8	10285770	10285770	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr8:10285770A>G	ENST00000528246.1	+	7	1081	c.458A>G	c.(457-459)tAc>tGc	p.Y153C	MSRA_ENST00000382490.5_Missense_Mutation_p.Y176C|MSRA_ENST00000441698.2_Missense_Mutation_p.Y179C|MSRA_ENST00000317173.4_Missense_Mutation_p.Y219C	NM_001199729.1	NP_001186658.1	Q9UJ68	MSRA_HUMAN	methionine sulfoxide reductase A	219					methionine metabolic process|protein modification process|response to oxidative stress	mitochondrion|nucleus	peptide-methionine-(S)-S-oxide reductase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	CCCAATGGCTACTGCGGCCTT	0.542000													3	137					0	0	0.150653	0	0
SCN10A	6336	broad.mit.edu	37	3	38797286	38797286	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr3:38797286C>T	ENST00000449082.2	-	10	1453	c.1454G>A	c.(1453-1455)cGc>cAc	p.R485H		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	485					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	taccatcctgcgctGGTTGTA	0.493000													6	222					0	0	0.217242	0	0
DUSP13	0	broad.mit.edu	37	10	76855494	76855494	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr10:76855494G>A	ENST00000491677.2	-	7	1162	c.620C>T	c.(619-621)gCc>gTc	p.A207V	DUSP13_ENST00000607131.1_Missense_Mutation_p.A171V|DUSP13_ENST00000464872.1_Missense_Mutation_p.A78V|DUSP13_ENST00000472493.2_Missense_Mutation_p.A78V|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000372700.3_Missense_Mutation_p.A128V|DUSP13_ENST00000478873.2_Missense_Mutation_p.A214V|DUSP13_ENST00000605915.1_Missense_Mutation_p.A100V	NM_001007271.1	NP_001007272.1	Q6B8I1	MDSP_HUMAN	dual specificity phosphatase 13	70						cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GCCTGCAGCGGCATTCACAAC	0.577000													5	307					0	0	0.184627	0	0
CDH19	28513	broad.mit.edu	37	18	64172539	64172539	+	Splice_Site	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr18:64172539C>T	ENST00000262150.2	-	12	2121	c.1828_splice	c.e12-1	p.G610_splice	CDH19_ENST00000540086.1_Splice_Site_p.G487_splice	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	610					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				AAAAATAAACCCTGATGAAGA	0.303000													10	165					0	0	0.335167	0	0
DNAJC13	23317	broad.mit.edu	37	3	132222140	132222140	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr3:132222140C>A	ENST00000260818.6	+	41	5047	c.4799C>A	c.(4798-4800)cCa>cAa	p.P1600Q		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1600							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						CAAGCAACTCCAGAAAATCCA	0.448000													4	117					0.150653	0.15668	0.150653	1	0
TMEM109	79073	broad.mit.edu	37	11	60687346	60687346	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr11:60687346G>C	ENST00000227525.3	+	2	584	c.181G>C	c.(181-183)Gtg>Ctg	p.V61L	TMEM109_ENST00000536171.1_Missense_Mutation_p.V61L|RP11-881M11.4_ENST00000543907.1_RNA	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN	transmembrane protein 109	61						integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						AGGTCGATCTGTGCGAGGGAC	0.542000													13	247					0	0	0.520397	0	0
APOBR	55911	broad.mit.edu	37	16	28507468	28507468	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr16:28507468G>A	ENST00000564831.1	+	2	1139	c.1106G>A	c.(1105-1107)gGg>gAg	p.G369E	APOBR_ENST00000328423.5_Missense_Mutation_p.G360E|APOBR_ENST00000431282.1_Missense_Mutation_p.G360E	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	360	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle		p.G360E(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GCCTCAGGAGGGGACGAGGCC	0.657000													16	13					0	0	0.500413	0	0
GRM7	2917	broad.mit.edu	37	3	7188209	7188209	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr3:7188209G>A	ENST00000486284.1	+	2	864	c.590G>A	c.(589-591)cGc>cAc	p.R197H	GRM7_ENST00000357716.4_Missense_Mutation_p.R197H|GRM7_ENST00000389336.4_Missense_Mutation_p.R197H|GRM7_ENST00000403881.1_Missense_Mutation_p.R197H|GRM7_ENST00000402647.2_Missense_Mutation_p.R197H	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	197					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TTCTTCTCTCGCGTGGTGCCA	0.522000													34	174					0	0	0.796494	0	0
POTEC	388468	broad.mit.edu	37	18	14513734	14513734	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr18:14513734C>T	ENST00000358970.5	-	10	1459	c.1460G>A	c.(1459-1461)gGa>gAa	p.G487E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	487								p.G487E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTGTGATATTCCAGTGTTCTG	0.323000													4	133					0	0	0.184627	0	0
HMGN2	3151	broad.mit.edu	37	1	26800580	26800580	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr1:26800580C>A	ENST00000361427.5	+	4	189	c.95C>A	c.(94-96)cCt>cAt	p.P32H	HMGN2_ENST00000493418.1_3'UTR	NM_005517.3	NP_005508.1	P05204	HMGN2_HUMAN	high mobility group nucleosomal binding domain 2	32					chromatin organization|regulation of transcription, DNA-dependent	chromatin|cytoplasm|nucleus	DNA binding|protein binding			breast(1)|lung(2)	3		all_cancers(24;1.9e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.38e-49)|OV - Ovarian serous cystadenocarcinoma(117;5.38e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.026)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		AAAAAGAAACCTGCTCCTCCA	0.443000													3	69					0.150653	0.15668	0.150653	1	0
KRTAP10-11	386678	broad.mit.edu	37	21	46066417	46066417	+	Silent	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr21:46066417C>T	ENST00000334670.8	+	1	87	c.42C>T	c.(40-42)tcC>tcT	p.S14S	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60411	KR109_HUMAN	keratin associated protein 10-11	14						keratin filament				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						GCGCTTACTCCGACTCCTGGC	0.672000													5	129					0	0	0.278610	0	0
ODF2L	57489	broad.mit.edu	37	1	86820356	86820356	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr1:86820356C>A	ENST00000359242.3	-	16	1905	c.1624G>T	c.(1624-1626)Gca>Tca	p.A542S	ODF2L_ENST00000370566.3_Missense_Mutation_p.A460S|ODF2L_ENST00000294678.2_Missense_Mutation_p.A526S|ODF2L_ENST00000370567.1_Missense_Mutation_p.A513S|ODF2L_ENST00000317336.7_Missense_Mutation_p.A542S|ODF2L_ENST00000394731.1_Missense_Mutation_p.A382S	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	542						centrosome				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		TTATTTTCTGCGTCCATCTGT	0.313000													3	190					0.115264	0.123159	0.115264	1	0
ANKRD30BP2	0	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs141732548	by1000genomes	TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr21:14414855A>G	ENST00000507941.1	+	0	95																											GCCAATGGCCATGCAGAAGTA	0.448000													4	84					0	0	0.248553	0	0
GRIN2C	2905	broad.mit.edu	37	17	72851092	72851092	+	Missense_Mutation	SNP	C	C	A	rs142837005	byFrequency	TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr17:72851092C>A	ENST00000293190.5	-	2	286	c.140G>T	c.(139-141)cGt>cTt	p.R47L	GRIN2C_ENST00000347612.4_Missense_Mutation_p.R47L|GRIN2C_ENST00000578159.1_Intron	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	47					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	GAGGCGGGCACGGAACTGGGC	0.687000													5	66					1.23904e-05	1.42125e-05	0.184627	1	0
MICALL1	85377	broad.mit.edu	37	22	38323471	38323471	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr22:38323471C>T	ENST00000215957.6	+	9	1645	c.1519C>T	c.(1519-1521)Cca>Tca	p.P507S	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	507	Pro-rich.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					CACACCATCGCCAGCGCTCAG	0.677000													44	44					0	0	0.847076	0	0
GPR116	221395	broad.mit.edu	37	6	46826878	46826878	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr6:46826878C>T	ENST00000283296.7	-	17	3050	c.2762G>A	c.(2761-2763)aGc>aAc	p.S921N	GPR116_ENST00000545669.1_Missense_Mutation_p.S350N|GPR116_ENST00000265417.7_Missense_Mutation_p.S921N|GPR116_ENST00000362015.4_Missense_Mutation_p.S921N|GPR116_ENST00000456426.2_Missense_Mutation_p.S779N	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	921					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CATCACTAAGCTCTCTGCAAA	0.448000													42	192					0	0	0.870114	0	0
SCRN1	9805	broad.mit.edu	37	7	29963705	29963705	+	Silent	SNP	G	G	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr7:29963705G>A	ENST00000426154.1	-	8	1289	c.1113C>T	c.(1111-1113)acC>acT	p.T371T	SCRN1_ENST00000242059.5_Silent_p.T371T|SCRN1_ENST00000409497.1_Silent_p.T371T|SCRN1_ENST00000416113.2_Silent_p.T197T	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	371					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						GCTCCAGCATGGTGCTCCTCA	0.557000													17	150					0	0	0.520397	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								45	92					0	0	0.870114	0	0
DOHH	83475	broad.mit.edu	37	19	3492382	3492382	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr19:3492382C>T	ENST00000427575.1	-	4	918	c.467G>A	c.(466-468)cGt>cAt	p.R156H	DOHH_ENST00000250937.3_Missense_Mutation_p.R156H	NM_001145165.1	NP_001138637.1	Q9BU89	DOHH_HUMAN	deoxyhypusine hydroxylase/monooxygenase	156					peptidyl-lysine modification to hypusine|post-translational protein modification	cytosol	deoxyhypusine monooxygenase activity|metal ion binding|protein binding			central_nervous_system(1)|large_intestine(1)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCACGTCACGCTCCTCAGC	0.746000													3	3					0	0	0.150653	0	0
CLIP4	79745	broad.mit.edu	37	2	29356592	29356592	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr2:29356592C>T	ENST00000320081.5	+	5	694	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C	CLIP4_ENST00000401617.2_Missense_Mutation_p.R40C|CLIP4_ENST00000401605.1_Missense_Mutation_p.R147C|CLIP4_ENST00000404424.1_Missense_Mutation_p.R147C	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	147								p.R147C(1)		endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TTTGCGGAGTCGCTGGACAAA	0.368000													8	125					0	0	0.278610	0	0
LCLAT1	253558	broad.mit.edu	37	2	30863465	30863465	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr2:30863465A>G	ENST00000309052.4	+	7	1434	c.1225A>G	c.(1225-1227)Aat>Gat	p.N409D	LCLAT1_ENST00000540623.1_Missense_Mutation_p.N371D|LCLAT1_ENST00000379509.3_Missense_Mutation_p.N371D|LCLAT1_ENST00000491680.2_3'UTR	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	409					multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						GCCACATTTAAATTCAAAGAA	0.343000													17	150					0	0	0.592651	0	0
TDG	6996	broad.mit.edu	37	12	104374683	104374683	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr12:104374683C>T	ENST00000392872.3	+	4	655	c.421C>T	c.(421-423)Ccg>Tcg	p.P141S	TDG_ENST00000542036.1_5'UTR|TDG_ENST00000544861.1_5'UTR|TDG_ENST00000266775.9_Missense_Mutation_p.P137S	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	141					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)		TGGCATAAACCCGGGACTAAT	0.363000								Base excision repair (BER), DNA glycosylases					23	208					0	0	0.681144	0	0
ABCA2	20	broad.mit.edu	37	9	139912486	139912486	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr9:139912486C>T	ENST00000265662.5	-	15	2182	c.2035G>A	c.(2035-2037)Gat>Aat	p.D679N	ABCA2_ENST00000371605.3_Missense_Mutation_p.D678N|ABCA2_ENST00000341511.6_Missense_Mutation_p.D679N			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	678					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TCCACCACATCGTGCCCCACA	0.662000													10	36					0	0	0.411799	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90501762	90501762	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr9:90501762G>A	ENST00000325643.5	+	4	2426	c.2360G>A	c.(2359-2361)cGc>cAc	p.R787H		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		CCTGTGCGTCGCTCCTGGCTC	0.577000													26	178					0	0	0.667858	0	0
FRMD8	83786	broad.mit.edu	37	11	65167269	65167269	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr11:65167269G>A	ENST00000317568.5	+	8	1029	c.866G>A	c.(865-867)cGc>cAc	p.R289H	FRMD8_ENST00000416776.2_Missense_Mutation_p.R255H|FRMD8_ENST00000355991.5_Missense_Mutation_p.R233H	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	289	FERM.					cytoskeleton	binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						CGGGGTGGGCGCAAGCCAGTT	0.632000													4	131					0	0	0.150653	0	0
POM121	9883	broad.mit.edu	37	7	72413896	72413896	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr7:72413896A>G	ENST00000395270.1	+	14	3610	c.2569A>G	c.(2569-2571)Acc>Gcc	p.T857A	POM121_ENST00000358357.3_Missense_Mutation_p.T857A|POM121_ENST00000446813.1_Missense_Mutation_p.T857A|POM121_ENST00000257622.4_Missense_Mutation_p.T857A|POM121_ENST00000434423.2_Missense_Mutation_p.T1122A	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1122	Pore side (Potential).|Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		p.T857A(8)		NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				AGGCTCCAGCACCACCACCGG	0.637000													3	57					0	0	0.115264	0	0
ANKRD20A8P	0	broad.mit.edu	37	2	95522815	95522815	+	RNA	SNP	A	A	G			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr2:95522815A>G	ENST00000432432.2	-	0	212					NR_040113.1																						ATCTTCTGCAATTCGGAGTCC	0.652000													4	132					0	0	0.278610	0	0
CEP41	95681	broad.mit.edu	37	7	130038826	130038826	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr7:130038826C>T	ENST00000223208.4	-	11	1298	c.1028G>A	c.(1027-1029)cGa>cAa	p.R343Q	CEP41_ENST00000541543.1_Missense_Mutation_p.R255Q|CEP41_ENST00000343969.5_Missense_Mutation_p.R271Q	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	343					G2/M transition of mitotic cell cycle	centrosome|cytosol											CTGAGCGCTTCGGGCACCAGG	0.577000													46	480					0	0	0.853193	0	0
LDB1	8861	broad.mit.edu	37	10	103871263	103871263	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr10:103871263G>A	ENST00000425280.1	-	2	398	c.56C>T	c.(55-57)tCg>tTg	p.S19L	LDB1_ENST00000490751.1_5'UTR|LDB1_ENST00000361198.5_5'UTR	NM_001113407.1	NP_001106878.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	19					histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		CTCCTTCGGCGAGTACAGCTT	0.547000													42	62					0	0	0.840704	0	0
GANAB	23193	broad.mit.edu	37	11	62400156	62400156	+	Missense_Mutation	SNP	T	T	G			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr11:62400156T>G	ENST00000346178.4	-	10	958	c.943A>C	c.(943-945)Atg>Ctg	p.M315L	GANAB_ENST00000356638.3_Missense_Mutation_p.M293L|GANAB_ENST00000534779.1_Missense_Mutation_p.M201L|GANAB_ENST00000540933.1_Missense_Mutation_p.M196L	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	293					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						TACAAGGCCATTGGGTTGTAC	0.542000													24	554					0	0	0.693898	0	0
FAM102A	399665	broad.mit.edu	37	9	130707146	130707146	+	Missense_Mutation	SNP	T	T	C	rs11558950		TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr9:130707146T>C	ENST00000373095.1	-	9	1324	c.949A>G	c.(949-951)Acc>Gcc	p.T317A	FAM102A_ENST00000300434.3_5'UTR|FAM102A_ENST00000373084.4_Missense_Mutation_p.T175A	NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A	317										breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						TCCACCCAGGTCGGGTGGCTC	0.607000													3	91					0	0	0.115264	0	0
PDE1A	0	broad.mit.edu	37	2	183095781	183095781	+	Nonsense_Mutation	SNP	A	A	C			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr2:183095781A>C	ENST00000435564.1	-	5	743	c.543T>G	c.(541-543)taT>taG	p.Y181*	PDE1A_ENST00000358139.2_Nonsense_Mutation_p.Y181*|PDE1A_ENST00000456212.1_Nonsense_Mutation_p.Y181*|PDE1A_ENST00000331935.6_Nonsense_Mutation_p.Y181*|PDE1A_ENST00000536095.1_Nonsense_Mutation_p.Y77*|PDE1A_ENST00000351439.5_Nonsense_Mutation_p.Y165*|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000346717.4_Nonsense_Mutation_p.Y147*|PDE1A_ENST00000410103.1_Nonsense_Mutation_p.Y181*|PDE1A_ENST00000409365.1_Nonsense_Mutation_p.Y165*	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	181					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TAAACAGTTCATAAATCATAA	0.323000													38	251					0	0	0.804634	0	0
MIB2	142678	broad.mit.edu	37	1	1563188	1563188	+	Silent	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr1:1563188C>T	ENST00000357210.4	+	13	2049	c.1833C>T	c.(1831-1833)cgC>cgT	p.R611R	MIB2_ENST00000378708.1_Silent_p.R517R|MIB2_ENST00000378710.3_Silent_p.R575R|MIB2_ENST00000378712.1_Silent_p.R488R|MIB2_ENST00000518681.1_Silent_p.R603R|MIB2_ENST00000360522.4_Silent_p.R576R|MIB2_ENST00000355826.5_Silent_p.R654R|MIB2_ENST00000520777.1_Silent_p.R664R|MIB2_ENST00000505820.2_Silent_p.R668R|MIB2_ENST00000504599.1_Silent_p.R567R	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	611					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGTGTGAGCGCGGCTGTGACG	0.692000													8	12					0	0	0.307466	0	0
PLD3	0	broad.mit.edu	37	19	40883897	40883897	+	Silent	SNP	C	C	G			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr19:40883897C>G	ENST00000409587.1	+	13	1687	c.1290C>G	c.(1288-1290)acC>acG	p.T430T	PLD3_ENST00000409735.4_Silent_p.T430T|PLD3_ENST00000409281.1_Silent_p.T430T|PLD3_ENST00000409419.1_Silent_p.T430T|PLD3_ENST00000356508.5_Silent_p.T430T			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	430	PLD phosphodiesterase 2.				lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			CTCTAGGAACCTCCAACTGGT	0.647000													23	139					0	0	0.639603	0	0
GTF2IRD2P1	0	broad.mit.edu	37	7	72685542	72685542	+	RNA	SNP	G	G	A	rs2539086		TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr7:72685542G>A	ENST00000425256.1	-	0	116					NR_002164.1																						ACGTTACCATGACAAAAGCAG	0.463000													5	274					0	0	0.278610	0	0
ZW10	9183	broad.mit.edu	37	11	113628513	113628513	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr11:113628513T>C	ENST00000200135.3	-	7	940	c.796A>G	c.(796-798)Ata>Gta	p.I266V		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	266	Interaction with RINT1.				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		TGGCTTTCTATCACAGCATGA	0.378000													16	147					0	0	0.479597	0	0
C11orf92	0	broad.mit.edu	37	11	111167023	111167023	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr11:111167023C>T	ENST00000532918.1	-	2	2586	c.181G>A	c.(181-183)Ggg>Agg	p.G61R	C11orf92_ENST00000355430.4_Missense_Mutation_p.G61R|C11orf92_ENST00000540738.1_Missense_Mutation_p.G61R																endometrium(1)|large_intestine(1)|lung(1)	3						TTACAGACCCCCTGACTTCCA	0.547000													7	126					0	0	0.278610	0	0
CDK11B	984	broad.mit.edu	37	1	1586881	1586881	+	Missense_Mutation	SNP	G	G	A	rs139684849	by1000genomes	TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr1:1586881G>A	ENST00000407249.3	-	2	168	c.169C>T	c.(169-171)Cgc>Tgc	p.R57C	CDK11B_ENST00000341832.6_Missense_Mutation_p.R23C|CDK11B_ENST00000317673.7_Missense_Mutation_p.R57C|CDK11B_ENST00000340677.5_Missense_Mutation_p.R57C			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	57			R -> C (in dbSNP:rs17424353).		apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						atctccatgcggtgatctctc	0.463000													3	86					0	0	0.115264	0	0
CCDC87	55231	broad.mit.edu	37	11	66359044	66359044	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr11:66359044C>T	ENST00000333861.3	-	1	1510	c.1443G>A	c.(1441-1443)atG>atA	p.M481I		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	481										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TATCAATATCCATTTTTTCAA	0.458000													14	311					0	0	0.500413	0	0
IER3	8870	broad.mit.edu	37	6	30711944	30711944	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr6:30711944C>T	ENST00000376377.2	-	1	381	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	IER3_ENST00000259874.5_Silent_p.P80P			P46695	IEX1_HUMAN	immediate early response 3	0					anatomical structure morphogenesis|anti-apoptosis|apoptosis	integral to membrane	protein binding			NS(1)	1						TGGCTGGGTTCGGTTCCTCGA	0.617000													5	167					0	0	0.248553	0	0
TUBB8P7	0	broad.mit.edu	37	16	90161057	90161057	+	RNA	SNP	G	G	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr16:90161057G>A	ENST00000564451.1	+	0	894				TUBB8P7_ENST00000567960.1_RNA																							CGTGAGCTGCGGGCGAGGACT	0.647000													10	117					0	0	0.361761	0	0
LRP1	4035	broad.mit.edu	37	12	57577624	57577624	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr12:57577624C>A	ENST00000243077.3	+	36	6327	c.5861C>A	c.(5860-5862)aCg>aAg	p.T1954K		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1954					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CGGGACCAGACGTGGCGTGAA	0.612000													3	119					0.004672	0.00528139	0.115264	1	0
OR1C1	26188	broad.mit.edu	37	1	247920937	247920937	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr1:247920937C>T	ENST00000408896.2	-	1	1045	c.772G>A	c.(772-774)Gtc>Atc	p.V258I		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CTGAAATAGACGGCGATGGCT	0.512000													51	44					0	0	0.870114	0	0
ACAN	176	broad.mit.edu	37	15	89401845	89401845	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr15:89401845G>A	ENST00000439576.2	+	12	6403	c.6029G>A	c.(6028-6030)aGc>aAc	p.S2010N	ACAN_ENST00000352105.7_Missense_Mutation_p.S2010N|ACAN_ENST00000561243.1_Missense_Mutation_p.S2010N|ACAN_ENST00000559004.1_Missense_Mutation_p.S2010N	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2010					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GATTTTGCCAGCACCACCAAT	0.522000													3	102					0	0	0.150653	0	0
ZNF76	7629	broad.mit.edu	37	6	35255507	35255507	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr6:35255507C>A	ENST00000373953.3	+	5	583	c.317C>A	c.(316-318)tCg>tAg	p.S106*	ZNF76_ENST00000440666.2_Nonsense_Mutation_p.S80*|ZNF76_ENST00000339411.5_Nonsense_Mutation_p.S106*	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	106					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						GCTGTGCCATCGGAGAGCACC	0.617000													3	125					0.115264	0.123159	0.115264	1	0
BOD1L1	259282	broad.mit.edu	37	4	13604235	13604235	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr4:13604235A>G	ENST00000040738.5	-	10	4424	c.4289T>C	c.(4288-4290)gTa>gCa	p.V1430A		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1430							DNA binding										GCCATTCTCTACTGTTGCTTT	0.378000													5	167					0	0	0.184627	0	0
NDOR1	27158	broad.mit.edu	37	9	140110623	140110623	+	Silent	SNP	A	A	G			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr9:140110623A>G	ENST00000371521.4	+	13	1742	c.1659A>G	c.(1657-1659)gcA>gcG	p.A553A	NDOR1_ENST00000458322.2_Silent_p.A537A|NDOR1_ENST00000344894.5_Silent_p.A544A|NDOR1_ENST00000427047.2_Intron	NM_001144026.1	NP_001137498.1	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	544					cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GCCAGGGTGCATACTTCTACC	0.642000													17	135					0	0	0.557998	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147367	26147367	+	Missense_Mutation	SNP	A	A	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr16:26147367A>T	ENST00000331351.5	+	2	1561	c.1169A>T	c.(1168-1170)aAa>aTa	p.K390I	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	390					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		TATTTCAACAAAACCAAGGGG	0.517000													21	85					0	0	0.608945	0	0
STAB2	55576	broad.mit.edu	37	12	104139000	104139000	+	Silent	SNP	C	C	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr12:104139000C>A	ENST00000388887.2	+	57	6285	c.6081C>A	c.(6079-6081)tcC>tcA	p.S2027S		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	2027					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TCACGGGCTCCGGGCAGTGCC	0.587000													3	64					0.115264	0.123159	0.115264	1	0
CELSR1	9620	broad.mit.edu	37	22	46929761	46929761	+	Missense_Mutation	SNP	C	C	T	rs145654024		TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr22:46929761C>T	ENST00000262738.3	-	1	3306	c.3307G>A	c.(3307-3309)Gac>Aac	p.D1103N	CELSR1_ENST00000497509.1_5'UTR|CELSR1_ENST00000395964.1_Missense_Mutation_p.D1103N	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1103					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ATCTGGAAGTCGGGCAGCACA	0.607000													32	324					0	0	0.796494	0	0
SCPEP1	59342	broad.mit.edu	37	17	55072929	55072929	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr17:55072929C>T	ENST00000262288.3	+	8	774	c.719C>T	c.(718-720)gCc>gTc	p.A240V		NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	240					proteolysis	extracellular region	serine-type carboxypeptidase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					GTACTGAATGCCGTAAATAAG	0.483000													4	193					0	0	0.150653	0	0
GABRA5	2558	broad.mit.edu	37	15	27128668	27128668	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr15:27128668G>A	ENST00000335625.5	+	6	1349	c.461G>A	c.(460-462)cGg>cAg	p.R154Q	GABRA5_ENST00000557449.1_Intron|GABRA5_ENST00000400081.3_Missense_Mutation_p.R154Q|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000355395.5_Missense_Mutation_p.R154Q	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	154					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AAGCTGCTGCGGCTGGAGGAC	0.677000													8	43					0	0	0.278610	0	0
RNF133	168433	broad.mit.edu	37	7	122338205	122338205	+	Silent	SNP	G	G	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr7:122338205G>A	ENST00000340112.2	-	1	1005	c.768C>T	c.(766-768)tgC>tgT	p.C256C	CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	256						endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						AGCAAATTACGCAGCTATCCC	0.398000													122	355					0	0	0.870114	0	0
CAPN13	92291	broad.mit.edu	37	2	30966407	30966407	+	Silent	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr2:30966407C>T	ENST00000295055.8	-	13	1463	c.1287G>A	c.(1285-1287)tcG>tcA	p.S429S	CAPN13_ENST00000534090.2_Silent_p.S429S	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	429					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TGTTTCTGAACGAGGAAAAAA	0.473000													99	134					0	0	0.870114	0	0
NCAN	1463	broad.mit.edu	37	19	19337662	19337662	+	Silent	SNP	G	G	A			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr19:19337662G>A	ENST00000252575.5	+	7	1483	c.1440G>A	c.(1438-1440)agG>agA	p.R480R		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	480					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CTAGGAGAAGGGGGCGCTTCA	0.667000													3	103					0	0	0.115264	0	0
STAB2	55576	broad.mit.edu	37	12	104049284	104049284	+	Silent	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr12:104049284C>T	ENST00000388887.2	+	15	1863	c.1659C>T	c.(1657-1659)taC>taT	p.Y553Y	RP11-341G23.2_ENST00000551905.1_RNA	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	553	FAS1 2.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GTGGACCATACACCATTTTTG	0.423000													60	53					0	0	0.870114	0	0
KLHL18	23276	broad.mit.edu	37	3	47361235	47361235	+	Silent	SNP	C	C	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr3:47361235C>T	ENST00000232766.5	+	2	242	c.222C>T	c.(220-222)tgC>tgT	p.C74C	KLHL18_ENST00000455924.2_Intron	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	74	BTB.									endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		TGATGGAGTGCAAGCAGGATG	0.493000													16	279					0	0	0.500413	0	0
RP11-1082L8.3	0	broad.mit.edu	37	8	125850042	125850043	+	RNA	INS	-	-	T			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr8:125850042_125850043insT	ENST00000533496.1	-	0	293																											tccttccttccttccttccttc	0.386													5	2	---	---	---	---					
FOLH1B	219595	broad.mit.edu	37	11	89409583	89409584	+	RNA	INS	-	-	TTT	rs112834075		TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr11:89409583_89409584insTTT	ENST00000532352.1	+	0	1261							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						tcttttcttacttttttttttt	0.347													3	3	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7577101	7577101	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr17:7577101delC	ENST00000420246.2	-	8	969	c.837delG	c.(835-837)ggfs	p.G279fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.G279fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.G279fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.G279fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.G279fs|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	279	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|G -> W (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.G279G(3)|p.?(2)|p.G279fs*65(2)|p.A276_R283delACPGRDRR(1)|p.G279V(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.G279E(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCCGGTCTCTCCCAGGACAGG	0.547		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			90	20	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76907649	76907650	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chrX:76907649_76907650delTC	ENST00000373344.5	-	15	4725_4726	c.4511_4512delGA	c.(4510-4512)cfs	p.R1504fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.R1466fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1504					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CAATACGTTTTCGTCTCTCTTC	0.386			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						180	59	---	---	---	---