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
C8orf76	84933	broad.mit.edu	37	8	124243966	124243966	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr8:124243966G>A	ENST00000276704.4	-	4	440	c.389C>T	c.(388-390)aCc>aTc	p.T130I	ZHX1-C8ORF76_ENST00000357082.4_Missense_Mutation_p.T98I|C8orf76_ENST00000521310.1_5'UTR	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	130							binding			NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			GAGTACCGTGGTTAAATGGTC	0.343000													21	134					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197404289	197404289	+	Missense_Mutation	SNP	C	C	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr1:197404289C>A	ENST00000367397.1	+	5	2297	c.1439C>A	c.(1438-1440)aCa>aAa	p.T480K	CRB1_ENST00000544212.1_Missense_Mutation_p.T580K|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367400.3_Missense_Mutation_p.T1099K|CRB1_ENST00000535699.1_Missense_Mutation_p.T1075K|CRB1_ENST00000367399.2_Missense_Mutation_p.T987K			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1099	EGF-like 11.		C -> G (in LCA8).|C -> R (in LCA8).		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						TGTCTAAGTACAATAGAAATC	0.358000													32	55					1.08312e-15	1.21362e-15	1	1	0
PAPOLB	56903	broad.mit.edu	37	7	4900494	4900494	+	Silent	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr7:4900494G>A	ENST00000404991.1	-	1	1131	c.945C>T	c.(943-945)atC>atT	p.I315I	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	315					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		CTGGTGTGATGATAGGCATAA	0.453000													5	141					0	0	1	0	0
ZNFX1	57169	broad.mit.edu	37	20	47874151	47874151	+	Missense_Mutation	SNP	T	T	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr20:47874151T>A	ENST00000396105.1	-	8	2713	c.2467A>T	c.(2467-2469)Ata>Tta	p.I823L	ZNFX1_ENST00000371754.4_Missense_Mutation_p.I823L|ZNFX1_ENST00000371752.1_Missense_Mutation_p.I823L	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	823							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCGATCTCTATCAGCGAACTc	0.527000													14	63					0	0	1	0	0
NR2F2	7026	broad.mit.edu	37	15	96877674	96877674	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr15:96877674C>G	ENST00000394166.3	+	2	2201	c.812C>G	c.(811-813)gCc>gGc	p.A271G	NR2F2_ENST00000421109.2_Missense_Mutation_p.A138G|NR2F2_ENST00000453270.2_Missense_Mutation_p.A118G|NR2F2_ENST00000394171.2_Missense_Mutation_p.A118G	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	271	Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			CCGCTCCTGGCCGCCGCCGGC	0.647000													7	53					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144993029	144993029	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr8:144993029C>G	ENST00000322810.4	-	32	11540	c.11371G>C	c.(11371-11373)Gag>Cag	p.E3791Q	PLEC_ENST00000354958.2_Missense_Mutation_p.E3632Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E3681Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E3640Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E3677Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E3658Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E3622Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E3654Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E3654Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3791	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ATCCGAGCCTCGAACAGGTCC	0.617000													11	87					0	0	1	0	0
LNX2	222484	broad.mit.edu	37	13	28141920	28141920	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr13:28141920G>A	ENST00000316334.3	-	4	841	c.712C>T	c.(712-714)Cgg>Tgg	p.R238W		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	238	PDZ 1.						zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		GGATTGGACCGATGAATTTCA	0.413000													18	84					0	0	1	0	0
TBC1D16	125058	broad.mit.edu	37	17	77921583	77921583	+	Missense_Mutation	SNP	G	G	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr17:77921583G>C	ENST00000310924.2	-	9	1704	c.1589C>G	c.(1588-1590)tCc>tGc	p.S530C	TBC1D16_ENST00000340848.7_Missense_Mutation_p.S168C|TBC1D16_ENST00000570373.1_Missense_Mutation_p.S169C|TBC1D16_ENST00000572862.1_Missense_Mutation_p.S168C|TBC1D16_ENST00000576768.1_Missense_Mutation_p.S155C	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	530	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			CATCCCTTGGGAATAGCCGAC	0.607000													12	29					0	0	1	0	0
ALDOB	229	broad.mit.edu	37	9	104188845	104188845	+	Missense_Mutation	SNP	T	T	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr9:104188845T>G	ENST00000374855.4	-	6	740	c.616A>C	c.(616-618)Act>Cct	p.T206P	ALDOB_ENST00000468981.2_5'UTR	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	206					fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				ACCTTCTCAGTAACATACTGG	0.368000													38	22					0	0	1	0	0
PHKG1	5260	broad.mit.edu	37	7	56154697	56154697	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr7:56154697C>T	ENST00000452681.2	-	4	432	c.283G>A	c.(283-285)Gag>Aag	p.E95K	PHKG1_ENST00000297373.2_Missense_Mutation_p.E95K|PHKG1_ENST00000537360.1_Intron|PHKG1_ENST00000489604.1_5'UTR	NM_001258459.1	NP_001245388.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	95	Protein kinase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GTGTTGGTCTCATAAGTGTCC	0.572000													34	68					0	0	1	0	0
CORO2B	10391	broad.mit.edu	37	15	69006964	69006964	+	Missense_Mutation	SNP	T	T	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr15:69006964T>C	ENST00000543950.1	+	7	1171	c.817T>C	c.(817-819)Tat>Cat	p.Y273H	CORO2B_ENST00000566799.1_Missense_Mutation_p.Y278H|CORO2B_ENST00000540068.1_Missense_Mutation_p.Y273H|CORO2B_ENST00000261861.5_Missense_Mutation_p.Y273H	NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	278					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GTTCCCCTTCTATGATGCTGA	0.602000													54	151					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196716277	196716277	+	Missense_Mutation	SNP	A	A	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr1:196716277A>G	ENST00000367429.4	+	22	3770	c.3530A>G	c.(3529-3531)tAt>tGt	p.Y1177C		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1177	Sushi 20.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ATGGAAAATTATAACATAGCA	0.343000													24	82					0	0	1	0	0
MISP	126353	broad.mit.edu	37	19	758306	758306	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:758306G>A	ENST00000215582.6	+	2	1463	c.1360G>A	c.(1360-1362)Gag>Aag	p.E454K		NM_173481.2	NP_775752.1			mitotic spindle positioning																		CTCCACAGCGGAGGCCAAGGC	0.607000													22	22					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22941439	22941439	+	Silent	SNP	G	G	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:22941439G>C	ENST00000397104.3	-	5	998	c.999C>G	c.(997-999)ccC>ccG	p.P333P	ZNF99_ENST00000596209.1_Silent_p.P424P					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CACATTTGCAGGGTTTCTCTG	0.368000													28	45					0	0	1	0	0
GNA14	9630	broad.mit.edu	37	9	80262668	80262668	+	Silent	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr9:80262668C>T	ENST00000341700.6	-	1	555	c.42G>A	c.(40-42)tcG>tcA	p.S14S		NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	14					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						TGATGCGCTGCGACTCCTTCT	0.692000													9	7					0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106969284	106969284	+	Missense_Mutation	SNP	G	G	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr6:106969284G>T	ENST00000369066.3	+	2	3464	c.2977G>T	c.(2977-2979)Gac>Tac	p.D993Y		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	993							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AAGCCGGTATGACCCAAGCAT	0.358000													23	82					5.61819e-17	6.32046e-17	1	1	0
SACS	26278	broad.mit.edu	37	13	23906234	23906234	+	Silent	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr13:23906234C>T	ENST00000382298.3	-	10	12369	c.11781G>A	c.(11779-11781)gcG>gcA	p.A3927A	SACS_ENST00000402364.1_Silent_p.A3177A|SACS_ENST00000382292.3_Silent_p.A3927A	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3927					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TATAATGTGGCGCATCGTCAA	0.443000													5	206					0	0	1	0	0
FMN1	342184	broad.mit.edu	37	15	33180454	33180454	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr15:33180454G>A	ENST00000334528.9	-	12	3084	c.3085C>T	c.(3085-3087)Cca>Tca	p.P1029S	FMN1_ENST00000561249.1_Missense_Mutation_p.P1154S|FMN1_ENST00000559047.1_Missense_Mutation_p.P1252S	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	1252	FH2.				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		AAATCCTGTGGTTCCGGCAAG	0.393000													15	38					0	0	1	0	0
DNAJC10	54431	broad.mit.edu	37	2	183601042	183601042	+	Missense_Mutation	SNP	A	A	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:183601042A>T	ENST00000264065.6	+	11	1331	c.916A>T	c.(916-918)Att>Ttt	p.I306F	DNAJC10_ENST00000537515.1_Missense_Mutation_p.I306F	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	306					apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			AAGCTTAGATATTACAACAAG	0.328000													24	53					0	0	1	0	0
NUPL1	9818	broad.mit.edu	37	13	25901160	25901160	+	Missense_Mutation	SNP	A	A	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr13:25901160A>G	ENST00000463407.1	+	11	1281	c.1138A>G	c.(1138-1140)Ata>Gta	p.I380V	NUPL1_ENST00000381736.3_Missense_Mutation_p.I380V|NUPL1_ENST00000466694.1_3'UTR|NUPL1_ENST00000381718.3_Missense_Mutation_p.I368V			Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	380	14 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		TAATTCACATATAACCCCTCA	0.363000													49	121					0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54403957	54403957	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:54403957C>T	ENST00000263431.3	+	14	1811	c.1529C>T	c.(1528-1530)aCg>aTg	p.T510M	PRKCG_ENST00000542049.1_Missense_Mutation_p.T397M|PRKCG_ENST00000540413.1_Missense_Mutation_p.T510M	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	510	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	p.T510M(1)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		TTCCCCGGGACGACAACCCGC	0.572000													143	275					0	0	1	0	0
HMGCS2	3158	broad.mit.edu	37	1	120293524	120293524	+	Silent	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr1:120293524G>A	ENST00000369406.3	-	9	1477	c.1428C>T	c.(1426-1428)ttC>ttT	p.F476F	HMGCS2_ENST00000544913.2_Silent_p.F434F	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	476					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		CAGGTGGGGAGAAATTCACTG	0.488000													8	20					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144808721	144808721	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr6:144808721G>A	ENST00000367545.3	+	28	3860	c.3860G>A	c.(3859-3861)cGc>cAc	p.R1287H		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1287					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GCAGATAATCGCACCCAGATT	0.448000													34	66					0	0	1	0	0
EXO5	64789	broad.mit.edu	37	1	40981078	40981078	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr1:40981078G>A	ENST00000372703.1	+	2	1936	c.862G>A	c.(862-864)Gat>Aat	p.D288N	EXO5_ENST00000358527.2_Missense_Mutation_p.D288N|EXO5_ENST00000296380.4_Missense_Mutation_p.D288N					exonuclease 5									p.D288Y(1)									CCCAGTTATTGATATCTTGAA	0.493000													23	121					0	0	1	0	0
TRIM32	22954	broad.mit.edu	37	9	119461060	119461060	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr9:119461060G>A	ENST00000450136.1	+	2	1200	c.1039G>A	c.(1039-1041)Gag>Aag	p.E347K	ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000313400.4_Intron|TRIM32_ENST00000373983.2_Missense_Mutation_p.E347K	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	347					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						GCGGGGTCCTGAGGCAGCCTC	0.547000													6	65					0	0	1	0	0
FANCC	2176	broad.mit.edu	37	9	97873861	97873861	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr9:97873861C>T	ENST00000289081.3	-	13	1467	c.1213G>A	c.(1213-1215)Gag>Aag	p.E405K	FANCC_ENST00000375305.1_Missense_Mutation_p.E405K	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	405					protein complex assembly	cytosol|nucleoplasm	protein binding			kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				GCCACCATCTCAGCCCATCCT	0.577000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				23	28					0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135009218	135009218	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr10:135009218G>A	ENST00000304613.3	+	10	1648	c.1627G>A	c.(1627-1629)Gtc>Atc	p.V543I	KNDC1_ENST00000368571.2_Missense_Mutation_p.V478I|KNDC1_ENST00000368572.2_Missense_Mutation_p.V543I			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	543	KIND 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CAAGTTCAGCGTCCCCCGCAA	0.687000													10	9					0	0	1	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140712045	140712045	+	Silent	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr5:140712045G>A	ENST00000517417.1	+	1	1794	c.1794G>A	c.(1792-1794)tcG>tcA	p.S598S	PCDHGA1_ENST00000378105.3_Silent_p.S598S	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGAGACTCGGGCCAGAACG	0.706000													42	39					0	0	1	0	0
OSGIN1	29948	broad.mit.edu	37	16	83992930	83992930	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr16:83992930G>A	ENST00000343939.2	+	4	765	c.382G>A	c.(382-384)Gat>Aat	p.D128N	OSGIN1_ENST00000393306.1_Missense_Mutation_p.D45N|OSGIN1_ENST00000361711.3_Missense_Mutation_p.D45N|OSGIN1_ENST00000565123.1_Missense_Mutation_p.D45N			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	128					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						CACGAAGCCAGATGCCATCCA	0.657000													22	42					0	0	1	0	0
ARHGEF9	23229	broad.mit.edu	37	X	62898400	62898400	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chrX:62898400C>T	ENST00000253401.6	-	5	1414	c.614G>A	c.(613-615)tGc>tAc	p.C205Y	ARHGEF9_ENST00000374870.4_Missense_Mutation_p.C103Y|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.C152Y|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.C184Y|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.C203Y	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	205	DH.				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						GAGCTCCATGCAAGCATCCAG	0.463000													11	9					0	0	1	0	0
SMTNL1	219537	broad.mit.edu	37	11	57313477	57313477	+	Silent	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:57313477G>A	ENST00000457912.1	+	5	1095	c.1095G>A	c.(1093-1095)caG>caA	p.Q365Q	SMTNL1_ENST00000399154.2_Silent_p.Q310Q|SMTNL1_ENST00000527972.1_Silent_p.Q347Q			E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	347										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						CCCGGGCACAGAACCGCAAAG	0.667000													8	30					0	0	1	0	0
POLR2B	5431	broad.mit.edu	37	4	57860682	57860682	+	Splice_Site	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr4:57860682C>G	ENST00000381227.1	+	5	769	c.356_splice	c.e5+1	p.T119_splice	POLR2B_ENST00000431623.2_Splice_Site_p.T44_splice|POLR2B_ENST00000314595.5_Splice_Site_p.T119_splice|POLR2B_ENST00000441246.2_Splice_Site_p.T112_splice			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	119					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					AGGAATCTCACGTAAGAAAGA	0.353000													11	26					0	0	1	0	0
NR1I3	9970	broad.mit.edu	37	1	161202965	161202965	+	Missense_Mutation	SNP	C	C	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr1:161202965C>A	ENST00000367983.4	-	4	696	c.402G>T	c.(400-402)caG>caT	p.Q134H	NR1I3_ENST00000367982.4_Missense_Mutation_p.Q134H|NR1I3_ENST00000412844.2_Missense_Mutation_p.Q105H|NR1I3_ENST00000367984.4_Missense_Mutation_p.Q134H|NR1I3_ENST00000367981.3_Missense_Mutation_p.Q105H|NR1I3_ENST00000442691.2_Missense_Mutation_p.Q134H|NR1I3_ENST00000367979.2_Missense_Mutation_p.Q134H|NR1I3_ENST00000428574.2_Missense_Mutation_p.Q134H|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000367980.2_Missense_Mutation_p.Q134H|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000506209.1_Missense_Mutation_p.Q105H|NR1I3_ENST00000504010.1_Missense_Mutation_p.Q105H|NR1I3_ENST00000505005.1_Missense_Mutation_p.Q134H|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000515621.1_Missense_Mutation_p.Q59H|NR1I3_ENST00000367985.3_Missense_Mutation_p.Q134H|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000437437.2_Missense_Mutation_p.Q105H|NR1I3_ENST00000508740.1_Missense_Mutation_p.Q105H|NR1I3_ENST00000512372.1_Missense_Mutation_p.Q105H|NR1I3_ENST00000511676.1_Missense_Mutation_p.Q105H|NR1I3_ENST00000515452.1_Missense_Mutation_p.Q134H			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	134					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCACCCTAAACTGCACAAACT	0.517000													6	262					1.26484e-09	1.39483e-09	1	1	0
OR5M10	390167	broad.mit.edu	37	11	56345134	56345134	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:56345134C>G	ENST00000526812.2	-	1	129	c.64G>C	c.(64-66)Gtg>Ctg	p.V22L		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						TTCTCTAGCACTGGGTCGTCT	0.458000													48	76					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152276071	152276071	+	Nonsense_Mutation	SNP	G	G	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr1:152276071G>C	ENST00000368799.1	-	3	11326	c.11291C>G	c.(11290-11292)tCa>tGa	p.S3764*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3764	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTCTCCTTGACCCCGGGTG	0.597000									Ichthyosis				199	367					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92531594	92531594	+	Missense_Mutation	SNP	C	C	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:92531594C>A	ENST00000298047.6	+	9	5432	c.5415C>A	c.(5413-5415)agC>agA	p.S1805R	FAT3_ENST00000525166.1_Missense_Mutation_p.S1655R|FAT3_ENST00000409404.2_Missense_Mutation_p.S1805R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1805	Cadherin 16.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATGCTGACAGCAACCGGAATG	0.483000										TCGA Ovarian(4;0.039)			9	21					0.000274275	0.000286602	1	1	0
ARRDC2	27106	broad.mit.edu	37	19	18121448	18121448	+	Silent	SNP	G	G	A	rs145370397		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:18121448G>A	ENST00000222250.4	+	7	1223	c.1080G>A	c.(1078-1080)ccG>ccA	p.P360P	ARRDC2_ENST00000379656.2_Silent_p.P355P	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2	360										endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						GCCCCTTCCCGCTTCCGCAGG	0.637000													42	63					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157521890	157521890	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr6:157521890G>A	ENST00000346085.5	+	18	4163	c.4162G>A	c.(4162-4164)Gag>Aag	p.E1388K	ARID1B_ENST00000367148.1_Missense_Mutation_p.E1428K|ARID1B_ENST00000350026.5_Missense_Mutation_p.E1375K|ARID1B_ENST00000275248.4_Missense_Mutation_p.E1370K	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1375					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CAAGCGCCACGAGGGCGACAT	0.552000													26	109					0	0	1	0	0
NUPL1	9818	broad.mit.edu	37	13	25901152	25901152	+	Missense_Mutation	SNP	A	A	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr13:25901152A>C	ENST00000463407.1	+	11	1273	c.1130A>C	c.(1129-1131)aAt>aCt	p.N377T	NUPL1_ENST00000381736.3_Missense_Mutation_p.N377T|NUPL1_ENST00000466694.1_3'UTR|NUPL1_ENST00000381718.3_Missense_Mutation_p.N365T			Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	377	14 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		CAAGCAAATAATTCACATATA	0.363000													50	114					0	0	1	0	0
XKR5	389610	broad.mit.edu	37	8	6690390	6690390	+	RNA	SNP	C	C	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr8:6690390C>A	ENST00000518724.1	-	0	241							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		AGAAGCCGTCCTGTGGTGAAG	0.597000													12	10					3.07112e-06	3.30827e-06	1	1	0
LRP2	4036	broad.mit.edu	37	2	170042307	170042307	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:170042307C>G	ENST00000263816.3	-	50	9836	c.9551G>C	c.(9550-9552)cGa>cCa	p.R3184P		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3184	EGF-like 12; calcium-binding (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATCTGGTTCTCGGAGGTAGCC	0.423000													54	139					0	0	1	0	0
SLC29A1	2030	broad.mit.edu	37	6	44195012	44195012	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr6:44195012G>A	ENST00000313248.7	+	3	260	c.199G>A	c.(199-201)Ggg>Agg	p.G67R	SLC29A1_ENST00000371713.1_5'UTR|SLC29A1_ENST00000371731.1_5'UTR|SLC29A1_ENST00000371740.5_5'UTR|SLC29A1_ENST00000427851.2_5'UTR|SLC29A1_ENST00000371708.1_5'UTR|SLC29A1_ENST00000393841.1_5'UTR|SLC29A1_ENST00000371724.1_5'UTR|SLC29A1_ENST00000371755.3_5'UTR|SLC29A1_ENST00000393844.1_5'UTR			Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	0					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Troglitazone(DB00197)	CCCTGAGGGAGGGAGCTGTCA	0.637000													8	19					0	0	1	0	0
SPATA31C1	441452	broad.mit.edu	37	9	90535912	90535912	+	RNA	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr9:90535912C>G	ENST00000602681.1	+	0	1816																											GGCCCATCTTCAATCCTCTTT	0.552000													114	128					0	0	1	0	0
CST5	1473	broad.mit.edu	37	20	23860158	23860158	+	Silent	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr20:23860158G>A	ENST00000304710.4	-	1	229	c.156C>T	c.(154-156)atC>atT	p.I52I		NM_001900.4	NP_001891.2	P28325	CYTD_HUMAN	cystatin D	52						extracellular region	cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						TGTACTCGCTGATGGCAAAGT	0.582000													58	246					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117232542	117232542	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr7:117232542C>T	ENST00000003084.6	+	14	2453	c.2321C>T	c.(2320-2322)aCa>aTa	p.T774I	CFTR_ENST00000454343.1_Missense_Mutation_p.T713I	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	774					respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	AACCTGATGACACACTCAGTT	0.527000									Cystic Fibrosis				4	41					0	0	1	0	0
SP1	6667	broad.mit.edu	37	12	53804967	53804967	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr12:53804967C>G	ENST00000426431.2	+	6	2340	c.2280C>G	c.(2278-2280)atC>atG	p.I760M	SP1_ENST00000327443.4_Missense_Mutation_p.I767M	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN	Sp1 transcription factor	767	Domain D.|VZV IE62-binding.				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		ACAGTGGCATCAACGTCATGC	0.547000													16	63					0	0	1	0	0
FEZF1	389549	broad.mit.edu	37	7	121943748	121943748	+	Silent	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr7:121943748G>A	ENST00000442488.2	-	1	811	c.744C>T	c.(742-744)ttC>ttT	p.F248F	FEZF1_ENST00000331178.4_Silent_p.F248F|FEZF1_ENST00000427185.2_Silent_p.F198F|FEZF1-AS1_ENST00000428449.1_RNA	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	248					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						AGCCTCGGCTGAAATCCGAGG	0.493000													50	75					0	0	1	0	0
ACTR5	79913	broad.mit.edu	37	20	37396227	37396227	+	Silent	SNP	G	G	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr20:37396227G>T	ENST00000243903.4	+	8	1591	c.1554G>T	c.(1552-1554)cgG>cgT	p.R518R		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	518					DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding			kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				GACCCTTCCGGTCTTCTTTTC	0.408000													56	84					3.8688e-20	4.37003e-20	1	1	0
GFPT2	9945	broad.mit.edu	37	5	179763530	179763530	+	Nonsense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr5:179763530G>A	ENST00000253778.8	-	3	332	c.163C>T	c.(163-165)Cag>Tag	p.Q55*		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	55	Glutamine amidotransferase type-2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	TTGACCAGCTGAATGTGTCTT	0.488000													17	241					0	0	1	0	0
FAM21C	253725	broad.mit.edu	37	10	46248143	46248143	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr10:46248143G>A	ENST00000336378.4	+	12	1229	c.1111G>A	c.(1111-1113)Gag>Aag	p.E371K	FAM21C_ENST00000537517.1_Missense_Mutation_p.E347K|FAM21C_ENST00000540872.1_Missense_Mutation_p.E371K|FAM21C_ENST00000374362.2_Missense_Mutation_p.E371K|FAM21C_ENST00000359860.4_Missense_Mutation_p.E315K	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN	family with sequence similarity 21, member C	371										central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						ATTTGATGATGAGGACGAGGA	0.567000													32	147					0	0	1	0	0
LRRC75A-AS1	125144	broad.mit.edu	37	17	16342900	16342900	+	RNA	SNP	G	G	A	rs11540320		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr17:16342900G>A	ENST00000475953.1	+	0	370				C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000484836.1_RNA	NR_027667.1																						CGCAGTCGCTGAAACCTCTAC	0.478000													32	190					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48559723	48559723	+	Nonsense_Mutation	SNP	C	C	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr7:48559723C>A	ENST00000435803.1	+	53	13908	c.13884C>A	c.(13882-13884)tgC>tgA	p.C4628*	ABCA13_ENST00000544596.1_Nonsense_Mutation_p.C358*	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4628					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TAGAACTCTGCTATAATCAGA	0.413000													8	36					1.12685e-05	1.20456e-05	1	1	0
FAM134C	162427	broad.mit.edu	37	17	40734139	40734139	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr17:40734139C>G	ENST00000309428.5	-	9	1152	c.1093G>C	c.(1093-1095)Gag>Cag	p.E365Q	FAM134C_ENST00000543197.1_Missense_Mutation_p.E170Q|FAM134C_ENST00000585894.1_Missense_Mutation_p.E268Q	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN	family with sequence similarity 134, member C	365						integral to membrane				endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		TGGGGCTCCTCAGCCCCTGGC	0.607000													31	66					0	0	1	0	0
DESI1	27351	broad.mit.edu	37	22	41997127	41997127	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr22:41997127C>T	ENST00000263256.6	-	6	737	c.481G>A	c.(481-483)Gtg>Atg	p.V161M		NM_015704.2	NP_056519.1	Q6ICB0	PPDE2_HUMAN	desumoylating isopeptidase 1	161																	GGTCTGCCCACGGAGCTCCCT	0.577000													3	17					0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42168797	42168797	+	Missense_Mutation	SNP	C	C	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr15:42168797C>A	ENST00000320955.6	-	20	4127	c.3900G>T	c.(3898-3900)caG>caT	p.Q1300H		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1300					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CACTCCTCCCCTGGAGCCTGG	0.652000													5	8					5.9392e-07	6.44761e-07	1	1	0
SUPT20H	55578	broad.mit.edu	37	13	37598214	37598214	+	Missense_Mutation	SNP	T	T	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr13:37598214T>C	ENST00000360252.4	-	19	1799	c.1552A>G	c.(1552-1554)Atg>Gtg	p.M518V	SUPT20H_ENST00000475892.1_Missense_Mutation_p.M517V|SUPT20H_ENST00000464744.1_Missense_Mutation_p.M518V|SUPT20H_ENST00000542180.1_Missense_Mutation_p.M481V|SUPT20H_ENST00000356185.3_Missense_Mutation_p.M518V|SUPT20H_ENST00000350612.6_Missense_Mutation_p.M517V	NM_001278481.1|NM_001278482.1|NM_017569.3	NP_001265410.1|NP_001265411.1|NP_060039.1			suppressor of Ty 20 homolog (S. cerevisiae)																		GGAGAAAGCATGCTAACTTGA	0.403000													25	45					0	0	1	0	0
OR5L1	219437	broad.mit.edu	37	11	55579636	55579636	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:55579636G>A	ENST00000333973.2	+	1	783	c.694G>A	c.(694-696)Gag>Aag	p.E232K		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E232Q(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GGGCTCTGCAGAGGGCAGGCA	0.517000													41	91					0	0	1	0	0
FNDC4	64838	broad.mit.edu	37	2	27717517	27717517	+	Silent	SNP	G	G	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:27717517G>T	ENST00000264703.3	-	2	421	c.30C>A	c.(28-30)ccC>ccA	p.P10P		NM_022823.2	NP_073734.1	Q9H6D8	FNDC4_HUMAN	fibronectin type III domain containing 4	10						integral to membrane		p.S11fs*28(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					GGAGTCCGCTGGGGGGGGAAC	0.647000													8	12					1.12685e-05	1.20456e-05	1	1	0
CERKL	375298	broad.mit.edu	37	2	182413467	182413467	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:182413467C>G	ENST00000410087.3	-	7	1113	c.1013G>C	c.(1012-1014)cGa>cCa	p.R338P	CERKL_ENST00000374969.2_Missense_Mutation_p.R225P|CERKL_ENST00000374970.2_Missense_Mutation_p.R269P|CERKL_ENST00000339098.5_Missense_Mutation_p.R364P|CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000409440.3_Missense_Mutation_p.R320P	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	364	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GGACATCCATCGATATTTTTC	0.453000													11	96					0	0	1	0	0
GCSAML	148823	broad.mit.edu	37	1	247719712	247719712	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr1:247719712C>G	ENST00000366488.4	+	2	137	c.33C>G	c.(31-33)tgC>tgG	p.C11W	GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000463359.1_5'UTR|GCSAML_ENST00000536561.1_Intron|GCSAML_ENST00000527084.1_5'UTR|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366489.1_Intron	NM_145278.3	NP_660321.1			germinal center-associated, signaling and motility-like																		CATATAGTTGCCTGGGAGAGA	0.368000													8	27					0	0	1	0	0
KIAA0226	9711	broad.mit.edu	37	3	197444966	197444966	+	Translation_Start_Site	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr3:197444966G>A	ENST00000273582.5	-	0	466				KIAA0226_ENST00000389665.5_Missense_Mutation_p.T34M|KIAA0226_ENST00000467303.1_Intron|KIAA0226_ENST00000449205.1_Missense_Mutation_p.T34M|KIAA0226_ENST00000296343.5_Missense_Mutation_p.T34M	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226						autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CTCCACCGTCGTCTTCAAATT	0.502000													4	90					0	0	1	0	0
HUNK	30811	broad.mit.edu	37	21	33346916	33346916	+	Nonsense_Mutation	SNP	A	A	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr21:33346916A>T	ENST00000270112.2	+	7	1420	c.1060A>T	c.(1060-1062)Aag>Tag	p.K354*	HUNK_ENST00000465574.1_3'UTR	NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	354					multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						CATGACCGAGAAGCTGGGTTA	0.562000													38	92					0	0	1	0	0
FAM45A	404636	broad.mit.edu	37	10	120877149	120877149	+	Nonsense_Mutation	SNP	C	C	T	rs113664509	byFrequency	TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr10:120877149C>T	ENST00000361432.2	+	4	477	c.451C>T	c.(451-453)Cga>Tga	p.R151*	FAM45A_ENST00000544016.1_Intron|FAM45A_ENST00000489988.1_3'UTR|FAM45A_ENST00000535029.1_Nonsense_Mutation_p.R151*	NM_207009.2	NP_996892.1	Q8TCE6	FA45A_HUMAN	family with sequence similarity 45, member A	151										breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		TTTTGATGCCCGAAAGGCCTA	0.493000													43	80					0	0	1	0	0
PASK	23178	broad.mit.edu	37	2	242054512	242054512	+	Silent	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:242054512G>A	ENST00000403638.3	-	14	3370	c.3279C>T	c.(3277-3279)ttC>ttT	p.F1093F	PASK_ENST00000234040.4_Silent_p.F1093F|PASK_ENST00000539818.1_Silent_p.F877F|PASK_ENST00000358649.4_Silent_p.F1093F|PASK_ENST00000544142.1_Silent_p.F907F|PASK_ENST00000405260.1_Silent_p.F1093F	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1093	Protein kinase.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GGCGGTCGATGAAAGCGAAGA	0.552000													31	46					0	0	1	0	0
ZWILCH	55055	broad.mit.edu	37	15	66812954	66812954	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr15:66812954G>A	ENST00000307897.5	+	6	927	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	RPL4_ENST00000568588.1_Intron|ZWILCH_ENST00000535141.2_Missense_Mutation_p.E69K|ZWILCH_ENST00000565960.1_3'UTR|ZWILCH_ENST00000565627.1_Missense_Mutation_p.E69K|ZWILCH_ENST00000446801.2_Missense_Mutation_p.E69K|RPL4_ENST00000564517.1_Intron	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	183					cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						TGTAAATCTTGAAAACCTAAA	0.299000													18	56					0	0	1	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13923921	13923921	+	Missense_Mutation	SNP	G	G	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:13923921G>C	ENST00000254323.2	+	6	1312	c.1123G>C	c.(1123-1125)Gag>Cag	p.E375Q	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.E92Q	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	375							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CCCACTGGAAGAGGGCAACTA	0.632000													12	28					0	0	1	0	0
CSK	1445	broad.mit.edu	37	15	75094370	75094370	+	Silent	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr15:75094370C>T	ENST00000220003.9	+	12	1845	c.1116C>T	c.(1114-1116)ttC>ttT	p.F372F	CSK_ENST00000439220.2_Silent_p.F372F|CSK_ENST00000567571.1_Silent_p.F372F|CSK_ENST00000309470.9_Silent_p.F372F	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN	c-src tyrosine kinase	372	Protein kinase.				blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway	centrosome|cytosol|Golgi apparatus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding			central_nervous_system(1)|lung(2)	3						TGTGGAGTTTCGGAATCCTTC	0.542000													36	124					0	0	1	0	0
USP17L2	377630	broad.mit.edu	37	8	11994707	11994707	+	Missense_Mutation	SNP	G	G	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr8:11994707G>T	ENST00000333796.3	-	1	1879	c.1563C>A	c.(1561-1563)caC>caA	p.H521Q	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	521					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						CCCTCTTGCTGTGTTTGTTCT	0.562000													35	139					6.45866e-13	7.20786e-13	1	1	0
ZNF483	158399	broad.mit.edu	37	9	114296094	114296094	+	Nonsense_Mutation	SNP	G	G	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr9:114296094G>T	ENST00000309235.5	+	4	735	c.577G>T	c.(577-579)Gag>Tag	p.E193*	ZNF483_ENST00000358151.4_Nonsense_Mutation_p.E193*|ZNF483_ENST00000355824.3_Nonsense_Mutation_p.E193*	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	193	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						TTTTCAAAAGGAGCTATATAA	0.403000													16	126					3.41278e-10	3.77844e-10	1	1	0
GDPD5	81544	broad.mit.edu	37	11	75152270	75152270	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:75152270G>A	ENST00000526177.1	-	10	2875	c.997C>T	c.(997-999)Cca>Tca	p.P333S	GDPD5_ENST00000533805.1_Missense_Mutation_p.P226S|GDPD5_ENST00000336898.3_Missense_Mutation_p.P471S|GDPD5_ENST00000376282.3_Missense_Mutation_p.P352S|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000533784.1_Missense_Mutation_p.P352S|GDPD5_ENST00000529721.1_Missense_Mutation_p.P471S			Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	471	GDPD.				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						GTGACGGATGGGACCCCCGCA	0.652000													19	39					0	0	1	0	0
TMC4	147798	broad.mit.edu	37	19	54673334	54673334	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:54673334G>A	ENST00000376591.4	-	3	507	c.376C>T	c.(376-378)Cgg>Tgg	p.R126W	TMC4_ENST00000476013.2_5'UTR|TMC4_ENST00000301187.4_Missense_Mutation_p.R120W	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	126						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CGAAGTAGCCGCGCCCATCGG	0.592000													15	81					0	0	1	0	0
LOXL2	4017	broad.mit.edu	37	8	23174465	23174465	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr8:23174465C>T	ENST00000389131.3	-	9	2002	c.1633G>A	c.(1633-1635)Gaa>Aaa	p.E545K		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	545					aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CTCTCACTTTCTGAGCAGGCA	0.662000													5	17					0	0	1	0	0
FOXJ3	22887	broad.mit.edu	37	1	42657219	42657219	+	Nonsense_Mutation	SNP	G	G	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr1:42657219G>C	ENST00000372572.1	-	11	1417	c.1106C>G	c.(1105-1107)tCa>tGa	p.S369*	FOXJ3_ENST00000372573.1_Nonsense_Mutation_p.S369*|FOXJ3_ENST00000545068.1_Nonsense_Mutation_p.S369*|FOXJ3_ENST00000361776.1_Nonsense_Mutation_p.S335*|FOXJ3_ENST00000361346.1_Nonsense_Mutation_p.S369*	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	369					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTGAGACAGTGAGACCTGTGC	0.577000													7	214					0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112702628	112702628	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:112702628G>A	ENST00000295408.4	+	3	831	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K	MERTK_ENST00000409780.1_Missense_Mutation_p.E16K|MERTK_ENST00000421804.2_Missense_Mutation_p.E192K			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	192					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CATCTACATCGAAGTACAAGG	0.408000													12	50					0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35720091	35720091	+	Missense_Mutation	SNP	G	G	A	rs148182997		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr9:35720091G>A	ENST00000314888.9	-	13	1762	c.1409C>T	c.(1408-1410)cCt>cTt	p.P470L	TLN1_ENST00000540444.1_Missense_Mutation_p.P470L	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	470					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTGCTGGGCAGGGGGCATGCT	0.627000													15	20					0	0	1	0	0
RECQL4	9401	broad.mit.edu	37	8	145737081	145737081	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr8:145737081C>T	ENST00000428558.2	-	21	3526	c.3485G>A	c.(3484-3486)cGc>cAc	p.R1162H	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	1162					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GTGGAAGATGCGGGCCACAGC	0.692000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				5	167					0	0	1	0	0
GRIP2	80852	broad.mit.edu	37	3	14552981	14552981	+	RNA	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr3:14552981C>T	ENST00000273083.3	-	0	1791							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						TCGTTTCCTGCTGGCCGCTGG	0.617000													9	17					0	0	1	0	0
CELA3A	10136	broad.mit.edu	37	1	22332001	22332001	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr1:22332001C>T	ENST00000290122.3	+	3	210	c.191C>T	c.(190-192)gCc>gTc	p.A64V	CELA3A_ENST00000374663.1_Missense_Mutation_p.A64V	NM_005747.4	NP_005738.4			chymotrypsin-like elastase family, member 3A											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AGCCTCATCGCCCCCGATTGG	0.627000											OREG0013211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	142					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42041238	42041238	+	Silent	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr1:42041238C>T	ENST00000372584.1	-	4	6198	c.5184G>A	c.(5182-5184)gcG>gcA	p.A1728A	HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000247584.5_Silent_p.A1728A|HIVEP3_ENST00000372583.1_Silent_p.A1728A|HIVEP3_ENST00000429157.2_Silent_p.A1728A	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1728					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TTTTGATCCTCGCCGGCTCCC	0.567000													31	192					0	0	1	0	0
CACNA1F	778	broad.mit.edu	37	X	49065818	49065818	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chrX:49065818C>G	ENST00000376265.2	-	42	4951	c.4890G>C	c.(4888-4890)gaG>gaC	p.E1630D	CACNA1F_ENST00000323022.5_Missense_Mutation_p.E1619D|CACNA1F_ENST00000376251.1_Missense_Mutation_p.E1565D	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1630					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	CCTGCCGCATCTCAGGACCCA	0.572000													10	9					0	0	1	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47251887	47251887	+	Missense_Mutation	SNP	A	A	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr6:47251887A>G	ENST00000296861.2	-	3	1423	c.1030T>C	c.(1030-1032)Ttt>Ctt	p.F344L		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	344					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			TTGATGTCAAAATGCTTGTGT	0.547000													25	134					0	0	1	0	0
SLC25A36	55186	broad.mit.edu	37	3	140692718	140692718	+	Silent	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr3:140692718C>T	ENST00000446041.2	+	6	838	c.613C>T	c.(613-615)Ctg>Ttg	p.L205L	SLC25A36_ENST00000324194.6_Silent_p.L205L|SLC25A36_ENST00000453248.2_Silent_p.L179L	NM_001104647.1|NM_018155.2	NP_001098117.1|NP_060625.2	Q96CQ1	S2536_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier ), member 36	205					response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						ACAAAAACTACTGGAATATAA	0.358000													16	44					0	0	1	0	0
METTL3	56339	broad.mit.edu	37	14	21971721	21971721	+	Splice_Site	SNP	C	C	A	rs143040965	byFrequency	TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr14:21971721C>A	ENST00000298717.4	-	3	470		c.e3-1		METTL3_ENST00000538267.1_Splice_Site	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3						gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		GAGCATCTGGCTAGAGAACGA	0.488000													7	38					0.00198382	0.00205757	1	1	0
PCDHGA8	9708	broad.mit.edu	37	5	140773323	140773323	+	Missense_Mutation	SNP	T	T	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr5:140773323T>C	ENST00000398604.2	+	1	943	c.943T>C	c.(943-945)Tat>Cat	p.Y315H	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGTTCATTTTATGAAATGGA	0.368000													50	70					0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57070013	57070013	+	Nonsense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:57070013G>A	ENST00000532437.1	-	6	4914	c.4603C>T	c.(4603-4605)Cag>Tag	p.Q1535*	TNKS1BP1_ENST00000358252.3_Nonsense_Mutation_p.Q1535*			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1535	Acidic.|Tankyrase-binding.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GCTGGCCCCTGATCGCTCCAC	0.642000													10	23					0	0	1	0	0
LST3	0	broad.mit.edu	37	12	21201656	21201656	+	Silent	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr12:21201656C>T	ENST00000381541.3	+	9	1211	c.1146C>T	c.(1144-1146)gcC>gcT	p.A382A	SLCO1B7_ENST00000421593.2_Silent_p.A335A|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000554957.1_Silent_p.A382A|LST3_ENST00000540229.1_Intron																							GAGTCCTCGCCCTACCTGCTG	0.353000													4	15					0	0	1	0	0
DUSP16	80824	broad.mit.edu	37	12	12629888	12629888	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr12:12629888C>G	ENST00000228862.2	-	7	2508	c.1877G>C	c.(1876-1878)aGa>aCa	p.R626T	DUSP16_ENST00000298573.4_3'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	626					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		TTGGCAGCTTCTGCGTTTAAA	0.537000													19	187					0	0	1	0	0
NEU1	4758	broad.mit.edu	37	6	31827528	31827528	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr6:31827528C>T	ENST00000375631.4	-	6	1345	c.1216G>A	c.(1216-1218)Gtg>Atg	p.V406M		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	406						cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)|Zanamivir(DB00558)	ATTTTGGCCACGGAGATGCTC	0.582000													39	77					0	0	1	0	0
IDE	3416	broad.mit.edu	37	10	94239147	94239147	+	Missense_Mutation	SNP	T	T	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr10:94239147T>C	ENST00000265986.6	-	15	1827	c.1771A>G	c.(1771-1773)Aac>Gac	p.N591D	IDE_ENST00000496903.1_Intron|IDE_ENST00000371581.5_Missense_Mutation_p.N36D	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	591					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TAGGCCATGTTACAGTGCAAG	0.413000													13	77					0	0	1	0	0
DCAF13	25879	broad.mit.edu	37	8	104427338	104427338	+	Silent	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr8:104427338G>A	ENST00000297579.5	+	1	397	c.120G>A	c.(118-120)gaG>gaA	p.E40E		NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	0					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CTAGTACTGAGGGGGCAAGAA	0.667000													21	46					0	0	1	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37466596	37466596	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr22:37466596C>T	ENST00000381792.2	-	15	1909	c.1769G>A	c.(1768-1770)cGa>cAa	p.R590Q	TMPRSS6_ENST00000346753.3_Missense_Mutation_p.R599Q|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.R590Q|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.R590Q			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	599	Peptidase S1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						ACAGATGTGTCGACCCCGAAC	0.672000													5	83					0	0	1	0	0
ZIM2	23619	broad.mit.edu	37	19	57290765	57290765	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:57290765C>G	ENST00000391708.3	-	11	1264	c.722G>C	c.(721-723)aGa>aCa	p.R241T	AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000593711.1_Missense_Mutation_p.R241T|ZIM2_ENST00000601070.1_Missense_Mutation_p.R241T|ZIM2_ENST00000599935.1_Missense_Mutation_p.R241T|ZIM2_ENST00000221722.5_Missense_Mutation_p.R241T	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1			zinc finger, imprinted 2											NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		CACTGTATGTCTGCTGTCTGT	0.502000													5	156					0	0	1	0	0
OR5D16	390144	broad.mit.edu	37	11	55606887	55606887	+	Nonsense_Mutation	SNP	T	T	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:55606887T>A	ENST00000378396.1	+	1	660	c.660T>A	c.(658-660)taT>taA	p.Y220*		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TGACATCTTATGCATTCATCA	0.468000													15	133					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123225996	123225996	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr4:123225996G>A	ENST00000264501.4	+	56	9903	c.9530G>A	c.(9529-9531)aGa>aAa	p.R3177K	KIAA1109_ENST00000388738.3_Missense_Mutation_p.R3177K|KIAA1109_ENST00000455637.1_Missense_Mutation_p.R3177K			Q2LD37	K1109_HUMAN	KIAA1109	3177					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AGAGCTGTAAGATTTGAAACT	0.383000													31	73					0	0	1	0	0
MFSD6	54842	broad.mit.edu	37	2	191353419	191353419	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:191353419C>G	ENST00000392328.1	+	5	1991	c.1667C>G	c.(1666-1668)tCt>tGt	p.S556C	MFSD6_ENST00000281416.7_Missense_Mutation_p.S556C|MFSD6_ENST00000535751.1_Missense_Mutation_p.S18C	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	556					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						GCATGCATTTCTTACCTCAGT	0.542000													4	64					0	0	1	0	0
KLK5	25818	broad.mit.edu	37	19	51453210	51453210	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:51453210G>A	ENST00000336334.3	-	3	588	c.236C>T	c.(235-237)cCg>cTg	p.P79L	KLK5_ENST00000593428.1_Missense_Mutation_p.P79L|KLK5_ENST00000391809.2_Missense_Mutation_p.P79L	NM_012427.4	NP_036559.1	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	79	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		GGCCTGCCACGGCTGGGTGTG	0.652000													8	34					0	0	1	0	0
PPP1R12C	54776	broad.mit.edu	37	19	55623899	55623899	+	Silent	SNP	C	C	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:55623899C>A	ENST00000263433.3	-	3	522	c.507G>T	c.(505-507)ctG>ctT	p.L169L	PPP1R12C_ENST00000435544.2_Silent_p.L95L|PPP1R12C_ENST00000376393.2_Silent_p.L169L	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	169						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GGTCCAGGGGCAGGTCCCCGT	0.716000													13	32					7.93312e-07	8.57884e-07	1	1	0
OGDH	4967	broad.mit.edu	37	7	44741199	44741199	+	Missense_Mutation	SNP	G	G	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr7:44741199G>C	ENST00000222673.5	+	20	2659	c.2617G>C	c.(2617-2619)Gat>Cat	p.D873H	OGDH_ENST00000449767.1_Missense_Mutation_p.D869H|OGDH_ENST00000447398.1_Missense_Mutation_p.D884H|OGDH_ENST00000444676.1_Missense_Mutation_p.D888H|OGDH_ENST00000439616.2_Missense_Mutation_p.D723H|OGDH_ENST00000543843.1_Missense_Mutation_p.D824H	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	873					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	ATCCAGCTTTGATGAGATGCT	0.498000													13	36					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940707	144940707	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr8:144940707G>A	ENST00000525985.1	-	2	6786	c.6715C>T	c.(6715-6717)Cgc>Tgc	p.R2239C				P58107	EPIPL_HUMAN	epiplakin 1	2239						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TTCTCCTGGCGGCCGGGCTGG	0.701000													8	247					0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3638150	3638150	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr17:3638150C>G	ENST00000263087.4	-	21	2714	c.2616G>C	c.(2614-2616)ttG>ttC	p.L872F	ITGAE_ENST00000571185.1_5'UTR	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	872					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)		TGGGGTAATTCAAGGCCATGC	0.542000													77	166					0	0	1	0	0
LRRN3	54674	broad.mit.edu	37	7	110764692	110764692	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr7:110764692G>A	ENST00000451085.1	+	4	2910	c.1864G>A	c.(1864-1866)Gaa>Aaa	p.E622K	LRRN3_ENST00000308478.5_Missense_Mutation_p.E622K|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000437687.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.E622K|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000452895.1_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	622						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		AAAAGAGTATGAAAAGAATAA	0.378000													15	49					0	0	1	0	0
RING1	6015	broad.mit.edu	37	6	33179753	33179753	+	Missense_Mutation	SNP	A	A	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr6:33179753A>T	ENST00000374656.4	+	6	1301	c.1093A>T	c.(1093-1095)Atc>Ttc	p.I365F	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	365	Gly-rich.|Necessary for interaction with CBX2 (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						CACCATCTACATCGCACCTGG	0.637000													7	8					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25322114	25322114	+	RNA	SNP	G	G	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr15:25322114G>T	ENST00000549804.2	+	0	1220																											GGCTCCTTCAGAGGCTTTTGG	0.493000													7	32					0.00198382	0.00205757	1	1	0
PLEKHS1	79949	broad.mit.edu	37	10	115540420	115540420	+	Silent	SNP	T	T	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr10:115540420T>C	ENST00000354462.3	+	6	635	c.477T>C	c.(475-477)tgT>tgC	p.C159C	PLEKHS1_ENST00000369309.1_Silent_p.C243C|PLEKHS1_ENST00000361048.1_3'UTR|PLEKHS1_ENST00000369312.4_Silent_p.C327C					pleckstrin homology domain containing, family S member 1																		CTGCATCCTGTATGTGTCCCT	0.438000													15	45					0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116632271	116632271	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr8:116632271C>G	ENST00000395715.3	-	3	631	c.54G>C	c.(52-54)aaG>aaC	p.K18N	TRPS1_ENST00000519076.1_Missense_Mutation_p.K5N|TRPS1_ENST00000520276.1_Missense_Mutation_p.K9N|TRPS1_ENST00000220888.5_Missense_Mutation_p.K5N|TRPS1_ENST00000519674.1_Missense_Mutation_p.K5N	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	5					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.K5N(1)|p.K5K(1)|p.K18K(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GAGGGGGGTTCTTTTTCCGGA	0.413000									Langer-Giedion syndrome				26	53					0	0	1	0	0
MROH8	140699	broad.mit.edu	37	20	35731160	35731160	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr20:35731160G>A	ENST00000400441.3	-	24	3058	c.3059C>T	c.(3058-3060)gCg>gTg	p.A1020V	MROH8_ENST00000441008.2_3'UTR|MROH8_ENST00000217333.8_Missense_Mutation_p.A849V|MROH8_ENST00000466091.1_5'UTR					maestro heat-like repeat family member 8																		TTCGGCCCTCGCCATCTGGAC	0.527000													42	274					0	0	1	0	0
PRPF40A	55660	broad.mit.edu	37	2	153532918	153532918	+	Splice_Site	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:153532918C>G	ENST00000410080.1	-	10	1573		c.e10+1			NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)						mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding	p.?(3)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						ACTAAACTTACTCAGCTACAG	0.333000													6	5					0	0	1	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47605040	47605040	+	Missense_Mutation	SNP	A	A	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr20:47605040A>G	ENST00000371917.4	+	18	2374	c.2374A>G	c.(2374-2376)Atg>Gtg	p.M792V		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	792					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AAAAAATAAAATGACGAAAGA	0.299000													63	62					0	0	1	0	0
NFU1	27247	broad.mit.edu	37	2	69623404	69623404	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:69623404C>T	ENST00000410022.2	-	8	944	c.739G>A	c.(739-741)Gat>Aat	p.D247N	NFU1_ENST00000471185.1_5'UTR|NFU1_ENST00000462320.1_Missense_Mutation_p.D106N|NFU1_ENST00000394305.1_Missense_Mutation_p.D106N|NFU1_ENST00000303698.3_Missense_Mutation_p.D223N	NM_001002755.2	NP_001002755.1	Q9UMS0	NFU1_HUMAN	NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)	247					iron-sulfur cluster assembly	cytosol|mitochondrion|nucleus	4 iron, 4 sulfur cluster binding|iron ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	7						TCTTTTTCATCTGATTCATCA	0.254000													15	140					0	0	1	0	0
NPFFR2	10886	broad.mit.edu	37	4	72897781	72897781	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr4:72897781G>A	ENST00000308744.6	+	1	261	c.163G>A	c.(163-165)Gcg>Acg	p.A55T	NPFFR2_ENST00000344413.5_Missense_Mutation_p.A55T	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	55					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			CAGGCAGTCCGCGGGGGACAG	0.677000													14	23					0	0	1	0	0
RP11-344E13.3	0	broad.mit.edu	37	17	20805554	20805554	+	RNA	SNP	G	G	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr17:20805554G>T	ENST00000577537.1	+	0	738				RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA																							TACATTTAAAGGATAGCCCGG	0.517000													62	171					1.7104e-27	1.96379e-27	1	1	0
MUC5B	727897	broad.mit.edu	37	11	1267341	1267341	+	Silent	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:1267341C>T	ENST00000447027.1	+	31	9298	c.9240C>T	c.(9238-9240)acC>acT	p.T3080T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.T3077T			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3077	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			LPEQTTT -> SQNRPPH (in Ref. 4; CAA96577).|Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.T3056T(1)|p.T3077T(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TTGGGACCACCGGGACCCTCC	0.602000													27	71					0	0	1	0	0
WDR7	23335	broad.mit.edu	37	18	54606602	54606602	+	Missense_Mutation	SNP	G	G	C	rs140089798	byFrequency	TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr18:54606602G>C	ENST00000254442.3	+	25	4253	c.4042G>C	c.(4042-4044)Gaa>Caa	p.E1348Q	WDR7_ENST00000357574.3_Missense_Mutation_p.E1315Q|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1348										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		AGGTCTTCAAGAATGTTTCCC	0.303000													15	146					0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126707991	126707991	+	Silent	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr3:126707991C>G	ENST00000393409.2	+	1	555	c.555C>G	c.(553-555)ctC>ctG	p.L185L	PLXNA1_ENST00000251772.4_Silent_p.L162L	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	185	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		AGGCCAAGCTCTTCGTGGGCA	0.652000													12	24					0	0	1	0	0
HIST1H1A	3024	broad.mit.edu	37	6	26017379	26017379	+	Silent	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr6:26017379C>T	ENST00000244573.3	-	1	661	c.582G>A	c.(580-582)gcG>gcA	p.A194A		NM_005325.3	NP_005316.1	Q02539	H11_HUMAN	histone cluster 1, H1a	194					nucleosome assembly|spermatogenesis	nucleosome|nucleus	DNA binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						TAGCCTTGGCCGCCTTGGGTT	0.448000													16	190					0	0	1	0	0
WDR59	79726	broad.mit.edu	37	16	74946248	74946248	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr16:74946248C>G	ENST00000262144.6	-	14	1367	c.1237G>C	c.(1237-1239)Gac>Cac	p.D413H		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	413	RWD.									breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CAGCTCCTGTCTGCCGCATCC	0.502000													26	54					0	0	1	0	0
TMPO	7112	broad.mit.edu	37	12	98909804	98909804	+	Silent	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr12:98909804C>T	ENST00000556029.1	+	1	515	c.159C>T	c.(157-159)ctC>ctT	p.L53L	TMPO-AS1_ENST00000548760.2_RNA|TMPO_ENST00000393053.2_Silent_p.L53L|TMPO-AS1_ENST00000546421.1_RNA|TMPO_ENST00000343315.5_Silent_p.L53L|TMPO_ENST00000266732.4_Silent_p.L53L|TMPO_ENST00000261210.5_Silent_p.L53L	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	53	Linker.|Nucleoplasmic (Potential).					integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGCCGCCGCTCCCCGCCGGCA	0.721000													4	22					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133215852	133215852	+	Missense_Mutation	SNP	T	T	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr12:133215852T>C	ENST00000320574.5	-	40	5454	c.5411A>G	c.(5410-5412)aAg>aGg	p.K1804R	POLE_ENST00000535270.1_Missense_Mutation_p.K1777R|POLE_ENST00000434528.3_5'UTR	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1804					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GGTGATCTCCTTCACCCAGCC	0.597000								DNA polymerases (catalytic subunits)			OREG0022269	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	24					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36873812	36873812	+	Missense_Mutation	SNP	C	C	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr3:36873812C>A	ENST00000429976.2	-	21	7377	c.7130G>T	c.(7129-7131)aGg>aTg	p.R2377M	TRANK1_ENST00000428977.2_Missense_Mutation_p.R1827M|TRANK1_ENST00000301807.6_Missense_Mutation_p.R1827M			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2377					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTCTGGGTTCCTGTACACGTA	0.478000													38	36					2.26627e-22	2.58078e-22	1	1	0
IBSP	3381	broad.mit.edu	37	4	88732994	88732994	+	Missense_Mutation	SNP	G	G	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr4:88732994G>C	ENST00000226284.5	+	7	953	c.886G>C	c.(886-888)Gag>Cag	p.E296Q		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	296					biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		CTATGAAGATGAGTACAGCTA	0.463000													10	58					0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86260842	86260842	+	Missense_Mutation	SNP	T	T	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:86260842T>C	ENST00000263857.6	-	28	4481	c.4103A>G	c.(4102-4104)aAc>aGc	p.N1368S	POLR1A_ENST00000409681.1_Missense_Mutation_p.N1368S			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1368					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TCTTCGAGTGTTTACGTTCCT	0.478000													12	37					0	0	1	0	0
ATF4	468	broad.mit.edu	37	22	39917917	39917917	+	Silent	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr22:39917917C>G	ENST00000337304.2	+	2	1248	c.366C>G	c.(364-366)ctC>ctG	p.L122L	ATF4_ENST00000396680.1_Silent_p.L122L|ATF4_ENST00000404241.2_Silent_p.L122L	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	122					cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)					CTTGTGATCTCTTTGCCCCCC	0.517000													16	220					0	0	1	0	0
NEK1	4750	broad.mit.edu	37	4	170354802	170354802	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr4:170354802C>G	ENST00000439128.2	-	27	3335	c.2695G>C	c.(2695-2697)Gaa>Caa	p.E899Q	NEK1_ENST00000510533.1_Missense_Mutation_p.E855Q|NEK1_ENST00000511633.1_Missense_Mutation_p.E883Q|NEK1_ENST00000512193.1_Missense_Mutation_p.E830Q|NEK1_ENST00000507142.1_Missense_Mutation_p.E927Q	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	899					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		ATTTCTGTTTCCAAATCATCA	0.353000													13	52					0	0	1	0	0
NBEAL1	65065	broad.mit.edu	37	2	204073440	204073440	+	Silent	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:204073440C>T	ENST00000449802.1	+	51	7833	c.7500C>T	c.(7498-7500)atC>atT	p.I2500I		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2500							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GTGTCGGCATCAGCACTGAGC	0.383000													46	53					0	0	1	0	0
ZNF264	9422	broad.mit.edu	37	19	57716791	57716791	+	Missense_Mutation	SNP	A	A	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:57716791A>T	ENST00000263095.6	+	3	601	c.187A>T	c.(187-189)Atc>Ttc	p.I63F	ZNF264_ENST00000536056.1_Missense_Mutation_p.I63F	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	63	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		AGCTGAGCTGATCTGCCACCT	0.517000													7	19					0	0	1	0	0
THADA	63892	broad.mit.edu	37	2	43801634	43801634	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:43801634C>G	ENST00000403856.1	-	12	1717	c.1570G>C	c.(1570-1572)Gag>Cag	p.E524Q	THADA_ENST00000330266.7_Missense_Mutation_p.E234Q|THADA_ENST00000404790.1_Missense_Mutation_p.E524Q|THADA_ENST00000415080.2_Missense_Mutation_p.E234Q|THADA_ENST00000402360.2_Missense_Mutation_p.E524Q|THADA_ENST00000405975.2_Missense_Mutation_p.E524Q|THADA_ENST00000405006.4_Missense_Mutation_p.E524Q			Q6YHU6	THADA_HUMAN	thyroid adenoma associated	524							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				ACCCAAGTCTCATGCCACTGG	0.373000													14	25					0	0	1	0	0
NTSR1	4923	broad.mit.edu	37	20	61386124	61386124	+	Missense_Mutation	SNP	C	C	T	rs140186245		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr20:61386124C>T	ENST00000370501.3	+	2	1173	c.802C>T	c.(802-804)Cgc>Tgc	p.R268C		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	268						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	p.R268S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			CGTCATGGTACGCCAGGCGGC	0.622000													59	84					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179718336	179718336	+	Nonsense_Mutation	SNP	C	C	A	rs139365189	byFrequency	TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:179718336C>A	ENST00000420890.2	-	20	3193	c.3076G>T	c.(3076-3078)Gaa>Taa	p.E1026*	CCDC141_ENST00000295723.5_Nonsense_Mutation_p.E451*	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	451							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CTTGCATCTTCGTACCAAAAA	0.338000													25	68					3.73808e-20	4.23953e-20	1	1	0
MTERFD3	80298	broad.mit.edu	37	12	107372302	107372302	+	Missense_Mutation	SNP	C	C	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr12:107372302C>A	ENST00000552029.1	-	2	2259	c.191G>T	c.(190-192)aGa>aTa	p.R64I	MTERFD3_ENST00000240050.4_Missense_Mutation_p.R64I|C12orf23_ENST00000551237.1_3'UTR|MTERFD3_ENST00000392830.2_Missense_Mutation_p.R64I			Q49AM1	MTER3_HUMAN	MTERF domain containing 3	64					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						TCCTTTTAATCTACGAATTTT	0.363000													14	123					4.7546e-09	5.22258e-09	1	1	0
GFM2	84340	broad.mit.edu	37	5	74046424	74046424	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr5:74046424C>G	ENST00000296805.3	-	7	956	c.499G>C	c.(499-501)Gat>Cat	p.D167H	GFM2_ENST00000345239.2_Missense_Mutation_p.D167H|GFM2_ENST00000509430.1_Missense_Mutation_p.D167H|GFM2_ENST00000427854.2_Missense_Mutation_p.D167H	NM_032380.3	NP_115756.2	Q969S9	RRF2M_HUMAN	G elongation factor, mitochondrial 2	167					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		GCAGAGGCATCAAATACAGCC	0.378000													10	22					0	0	1	0	0
CACNG7	59284	broad.mit.edu	37	19	54417826	54417826	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:54417826C>T	ENST00000391767.1	+	3	481	c.269C>T	c.(268-270)aCg>aTg	p.T90M	CACNG7_ENST00000222212.2_Missense_Mutation_p.T90M|CACNG7_ENST00000391766.1_Missense_Mutation_p.T90M|CACNG7_ENST00000468076.1_Intron			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	90					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		ACGGAAAACACGGAGAATATT	0.547000													11	38					0	0	1	0	0
FBXO11	80204	broad.mit.edu	37	2	48059544	48059544	+	Translation_Start_Site	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:48059544G>A	ENST00000434523.2	-	0	46				FBXO11_ENST00000403359.3_Missense_Mutation_p.R448W|FBXO11_ENST00000402508.1_Missense_Mutation_p.R364W|FBXO11_ENST00000316377.4_Missense_Mutation_p.R364W			Q86XK2	FBX11_HUMAN	F-box protein 11						ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ATATGATTCCGTCTAATAATT	0.343000			"""Mis, F, D"""		DLBCL								17	56					0	0	1	0	0
GRIK5	2901	broad.mit.edu	37	19	42566782	42566782	+	Silent	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:42566782G>A	ENST00000262895.3	-	4	365	c.366C>T	c.(364-366)ccC>ccT	p.P122P	GRIK5_ENST00000301218.4_Silent_p.P122P|GRIK5_ENST00000593562.1_Silent_p.P122P	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	122						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	GTGTCTCCTCGGGACCCACCT	0.622000													43	103					0	0	1	0	0
NBEAL1	65065	broad.mit.edu	37	2	204000745	204000745	+	Missense_Mutation	SNP	G	G	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:204000745G>C	ENST00000449802.1	+	27	4405	c.4072G>C	c.(4072-4074)Gag>Cag	p.E1358Q		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1358							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TTTCAAATCAGAGAATCAAGA	0.413000													5	60					0	0	1	0	0
NR2F2	7026	broad.mit.edu	37	15	96877676	96877676	+	Missense_Mutation	SNP	G	G	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr15:96877676G>C	ENST00000394166.3	+	2	2203	c.814G>C	c.(814-816)Gcc>Ccc	p.A272P	NR2F2_ENST00000421109.2_Missense_Mutation_p.A139P|NR2F2_ENST00000453270.2_Missense_Mutation_p.A119P|NR2F2_ENST00000394171.2_Missense_Mutation_p.A119P	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	272	Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			GCTCCTGGCCGCCGCCGGCCT	0.652000													8	53					0	0	1	0	0
ITGB6	3694	broad.mit.edu	37	2	160994681	160994681	+	Silent	SNP	T	T	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:160994681T>C	ENST00000283249.2	-	9	1374	c.1137A>G	c.(1135-1137)gtA>gtG	p.V379V	ITGB6_ENST00000428609.2_Silent_p.V337V|ITGB6_ENST00000409872.1_Silent_p.V379V|ITGB6_ENST00000409967.2_Silent_p.V379V			P18564	ITB6_HUMAN	integrin, beta 6	379					cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TGTCTCCTAATACTTCCAGTT	0.428000													40	95					0	0	1	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141297720	141297720	+	Silent	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr8:141297720C>T	ENST00000389328.4	-	13	2276	c.2262G>A	c.(2260-2262)acG>acA	p.T754T	TRAPPC9_ENST00000438773.2_Silent_p.T656T|TRAPPC9_ENST00000389327.3_Silent_p.T647T	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	656					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						TCACAGTAATCGTTCCAGTCG	0.602000													4	94					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25307544	25307544	+	RNA	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr15:25307544C>T	ENST00000549804.2	+	0	397				SNORD116-5_ENST00000384462.1_RNA																							AGTGAGAACTCATACCGTCGT	0.502000													14	330					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179498022	179498022	+	Silent	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:179498022G>A	ENST00000589042.1	-	233	43202	c.42978C>T	c.(42976-42978)taC>taT	p.Y14326Y	TTN_ENST00000342175.6_Silent_p.Y5453Y|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.Y11758Y|TTN_ENST00000591111.1_Silent_p.Y12685Y|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.Y5386Y|TTN_ENST00000460472.2_Silent_p.Y5261Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12685							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTCTACTCCGTACAGAGGCT	0.408000													47	115					0	0	1	0	0
LTA	4049	broad.mit.edu	37	6	31540721	31540721	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr6:31540721G>A	ENST00000454783.1	+	3	374	c.116G>A	c.(115-117)gGc>gAc	p.G39D	LTA_ENST00000418386.2_Missense_Mutation_p.G39D	NM_001159740.2	NP_001153212.1	P01374	TNFB_HUMAN	lymphotoxin alpha	39					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	CCTGGTGTTGGCCTCACACCT	0.607000													4	38					0	0	1	0	0
MMEL1	79258	broad.mit.edu	37	1	2541172	2541172	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr1:2541172C>G	ENST00000288709.6	-	5	604	c.364G>C	c.(364-366)Gag>Cag	p.E122Q	MMEL1_ENST00000378412.3_Missense_Mutation_p.E131Q|MMEL1_ENST00000502556.1_Missense_Mutation_p.E131Q	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	131					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GAGTTGGTCTCAGGGATCACG	0.617000													26	56					0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62611200	62611200	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr6:62611200C>G	ENST00000281156.4	-	5	838	c.560G>C	c.(559-561)gGc>gCc	p.G187A		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		AATACCTCTGCCACGACCAGA	0.408000													14	82					0	0	1	0	0
CCDC126	90693	broad.mit.edu	37	7	23651052	23651052	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr7:23651052C>G	ENST00000307471.3	+	3	575	c.118C>G	c.(118-120)Caa>Gaa	p.Q40E	CCDC126_ENST00000409765.1_Missense_Mutation_p.Q40E|CCDC126_ENST00000410069.1_Missense_Mutation_p.Q40E|CCDC126_ENST00000486109.1_3'UTR	NM_138771.3	NP_620126.2	Q96EE4	CC126_HUMAN	coiled-coil domain containing 126	40						extracellular region				endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7						ACCAAGACATCAAAGCAGTGT	0.368000													6	129					0	0	1	0	0
MOGS	7841	broad.mit.edu	37	2	74692085	74692085	+	Missense_Mutation	SNP	C	C	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:74692085C>A	ENST00000233616.4	-	1	452	c.290G>T	c.(289-291)gGa>gTa	p.G97V	MOGS_ENST00000452063.2_5'UTR|MOGS_ENST00000462443.1_Intron|MOGS_ENST00000409065.1_Missense_Mutation_p.G97V|MOGS_ENST00000535045.1_Missense_Mutation_p.G97V	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	97					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						GCGGTAGGTTCCCCAGAAGAG	0.721000													6	12					1	1	1	1	0
TET1	80312	broad.mit.edu	37	10	70451319	70451319	+	Silent	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr10:70451319C>T	ENST00000373644.4	+	12	6368	c.6159C>T	c.(6157-6159)aaC>aaT	p.N2053N		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	2053					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AGCACAAAAACCTAAATAAGC	0.463000													6	40					0	0	1	0	0
NDUFA9	4704	broad.mit.edu	37	12	4771726	4771726	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr12:4771726G>A	ENST00000266544.5	+	6	600	c.580G>A	c.(580-582)Gca>Aca	p.A194T		NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	194					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21					NADH(DB00157)	AGTGAGAGATGCATTTCCGGA	0.373000													24	87					0	0	1	0	0
NCBP1	4686	broad.mit.edu	37	9	100405623	100405623	+	Missense_Mutation	SNP	A	A	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr9:100405623A>G	ENST00000375147.3	+	4	618	c.362A>G	c.(361-363)tAt>tGt	p.Y121C		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	121	MIF4G.				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				GCAAACAATTATAATGAAGCC	0.338000													79	59					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10265714	10265714	+	Missense_Mutation	SNP	T	T	A	rs145355767	by1000genomes	TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr17:10265714T>A	ENST00000418404.3	-	3	474	c.311A>T	c.(310-312)tAc>tTc	p.Y104F	MYH13_ENST00000570743.1_Missense_Mutation_p.Y104F|MYH13_ENST00000252172.4_Missense_Mutation_p.Y104F			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	104	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TTTGAGGTTGTACAGAACAGC	0.453000													54	131					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11106910	11106910	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:11106910C>T	ENST00000358026.2	+	10	1899	c.1615C>T	c.(1615-1617)Cgc>Tgc	p.R539C	SMARCA4_ENST00000590574.1_Missense_Mutation_p.R539C|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R539C|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R539C|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R539C|SMARCA4_ENST00000429416.3_Missense_Mutation_p.R539C|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R539C|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R539C|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R539C	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	539					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.R539C(1)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GGAGGGGTACCGCAAGCTCAT	0.557000			"""F, N, Mis"""		NSCLC								43	120					0	0	1	0	0
SEC23IP	11196	broad.mit.edu	37	10	121693241	121693241	+	Nonsense_Mutation	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr10:121693241C>T	ENST00000369075.3	+	18	3037	c.2965C>T	c.(2965-2967)Cga>Tga	p.R989*	SEC23IP_ENST00000543134.1_Nonsense_Mutation_p.R778*|SEC23IP_ENST00000475542.1_3'UTR	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	989	DDHD.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding	p.R989*(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		AGAAATTTATCGAACAATGAA	0.313000													8	54					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138169405	138169405	+	Missense_Mutation	SNP	T	T	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:138169405T>A	ENST00000409968.1	+	14	3100	c.2922T>A	c.(2920-2922)aaT>aaA	p.N974K	THSD7B_ENST00000413152.2_Missense_Mutation_p.N943K|THSD7B_ENST00000272643.3_Missense_Mutation_p.N974K|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CTGATAAAAATGGAAGACCTG	0.527000													15	30					0	0	1	0	0
ATXN3	4287	broad.mit.edu	37	14	92537302	92537302	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr14:92537302G>A	ENST00000545170.1	-	10	1063	c.995C>T	c.(994-996)tCa>tTa	p.S332L	ATXN3_ENST00000429774.2_Missense_Mutation_p.S316L|ATXN3_ENST00000532032.1_Missense_Mutation_p.S323L|ATXN3_ENST00000393287.5_Missense_Mutation_p.S323L|ATXN3_ENST00000503767.1_Missense_Mutation_p.S308L|ATXN3_ENST00000340660.6_Missense_Mutation_p.S268L|ATXN3_ENST00000502250.1_Missense_Mutation_p.S144L|ATXN3_ENST00000554491.1_5'UTR	NM_001164774.1|NM_001164776.1|NM_001164777.1|NM_001164778.1|NM_004993.5	NP_001158246.1|NP_001158248.1|NP_001158249.1|NP_001158250.1|NP_004984.2	P54252	ATX3_HUMAN	ataxin 3	323					cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding			endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		AAGTGCTCCTGAACTGGTGGC	0.507000													19	66					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62293276	62293276	+	Silent	SNP	G	G	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:62293276G>C	ENST00000378024.4	-	5	8887	c.8613C>G	c.(8611-8613)ctC>ctG	p.L2871L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2871					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGGGGCCTTTGAGGTCAACTT	0.468000													28	320					0	0	1	0	0
EXOC6B	23233	broad.mit.edu	37	2	72968463	72968463	+	Silent	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:72968463C>T	ENST00000272427.6	-	2	379	c.249G>A	c.(247-249)ctG>ctA	p.L83L	EXOC6B_ENST00000410104.1_Silent_p.L83L	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	83					protein transport|vesicle docking involved in exocytosis	exocyst				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						CTCTCACTTTCAGCAGTTCAG	0.418000													24	189					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84608492	84608492	+	Missense_Mutation	SNP	A	A	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr9:84608492A>T	ENST00000344803.2	+	4	3154	c.3107A>T	c.(3106-3108)aAa>aTa	p.K1036I		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		CAAAGCGAAAAATTAGATTCA	0.433000													32	148					0	0	1	0	0
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42135877	42135877	+	Silent	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr15:42135877G>A	ENST00000382448.4	+	16	1449	c.1440G>A	c.(1438-1440)ctG>ctA	p.L480L	JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.L480L|PLA2G4B_ENST00000452633.1_Silent_p.L249L|JMJD7-PLA2G4B_ENST00000458483.1_Silent_p.L249L	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN		249	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						CGGCCAGACTGAGGGAGCTGG	0.642000													14	54					0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73736880	73736880	+	Missense_Mutation	SNP	G	G	A	rs144402600	byFrequency	TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr17:73736880G>A	ENST00000200181.3	+	22	2744	c.2557G>A	c.(2557-2559)Gag>Aag	p.E853K	ITGB4_ENST00000579662.1_Missense_Mutation_p.E853K|ITGB4_ENST00000450894.3_Missense_Mutation_p.E853K|ITGB4_ENST00000449880.2_Missense_Mutation_p.E853K|ITGB4_ENST00000339591.3_Missense_Mutation_p.E853K|ITGB4_ENST00000584558.1_3'UTR	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	853					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCAGCTGAACGAGGTCTACAG	0.687000													5	67					0	0	1	0	0
FAM179B	23116	broad.mit.edu	37	14	45475443	45475443	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr14:45475443C>G	ENST00000361462.2	+	5	3060	c.2877C>G	c.(2875-2877)ttC>ttG	p.F959L	FAM179B_ENST00000361577.3_Missense_Mutation_p.F959L|FAM179B_ENST00000382233.2_Missense_Mutation_p.F959L|KLHL28_ENST00000553817.1_Intron			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	959							binding	p.F959F(1)		endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AATTAAATTTCAAGGATAAAG	0.284000													16	36					0	0	1	0	0
OR9Q1	219956	broad.mit.edu	37	11	57946991	57946991	+	Silent	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:57946991C>T	ENST00000335397.3	+	3	391	c.75C>T	c.(73-75)ctC>ctT	p.L25L		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				AATGGGCACTCCCTCTCTTCC	0.458000													25	77					0	0	1	0	0
KCNA7	3743	broad.mit.edu	37	19	49573904	49573904	+	Silent	SNP	G	G	T	rs140612328		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:49573904G>T	ENST00000221444.1	-	2	1142	c.787C>A	c.(787-789)Cgg>Agg	p.R263R		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	263						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		CCTCGCTGCCGGGCCAGCTCG	0.567000													32	75					5.90632e-09	6.46221e-09	1	1	0
DAO	1610	broad.mit.edu	37	12	109284009	109284009	+	Missense_Mutation	SNP	A	A	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr12:109284009A>C	ENST00000228476.3	+	5	616	c.412A>C	c.(412-414)Att>Ctt	p.I138L	DAO_ENST00000551281.1_Intron	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	138					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						CACAAGCCTAATTCTGGAGGG	0.433000													33	53					0	0	1	0	0
CHIA	27159	broad.mit.edu	37	1	111857201	111857201	+	Nonsense_Mutation	SNP	G	G	A	rs147282128		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr1:111857201G>A	ENST00000369740.1	+	5	400	c.297G>A	c.(295-297)tgG>tgA	p.W99*	CHIA_ENST00000483391.1_5'UTR|CHIA_ENST00000451398.2_5'UTR|CHIA_ENST00000430615.1_5'UTR|CHIA_ENST00000353665.6_5'UTR|CHIA_ENST00000343320.6_Nonsense_Mutation_p.W99*	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	99	Chitooligosaccharide binding (Probable).				apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		TTGGAGGCTGGAACTTCGGGA	0.443000													20	29					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86416063	86416063	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr7:86416063G>A	ENST00000361669.2	+	3	2054	c.955G>A	c.(955-957)Ggc>Agc	p.G319S	GRM3_ENST00000439827.1_Missense_Mutation_p.G319S|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.G191S|GRM3_ENST00000394720.2_Missense_Mutation_p.G317S	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	319					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TGTGGCCTACGGCGCCATCAC	0.672000													16	43					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50223357	50223357	+	Missense_Mutation	SNP	A	A	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr15:50223357A>T	ENST00000284509.6	-	16	1742	c.1601T>A	c.(1600-1602)tTt>tAt	p.F534Y	ATP8B4_ENST00000559829.1_Missense_Mutation_p.F534Y	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	534					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GAAATCCAAAAAGGCAAGTAA	0.368000													37	80					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121222051	121222051	+	Nonsense_Mutation	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr8:121222051C>T	ENST00000297848.3	+	12	1648	c.1378C>T	c.(1378-1380)Cga>Tga	p.R460*	COL14A1_ENST00000537875.1_Nonsense_Mutation_p.R460*|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Nonsense_Mutation_p.R460*|COL14A1_ENST00000247781.3_Nonsense_Mutation_p.R365*	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	460	Fibronectin type-III 3.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GAACAGCATGCGAGTCAAATG	0.468000													4	132					0	0	1	0	0
PAPOLG	64895	broad.mit.edu	37	2	60998716	60998716	+	Silent	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:60998716C>T	ENST00000238714.3	+	7	804	c.555C>T	c.(553-555)gaC>gaT	p.D185D		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	185					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			ATCTAAGAGACGACTCTCGCC	0.343000													25	92					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11441590	11441590	+	Missense_Mutation	SNP	A	A	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr7:11441590A>T	ENST00000423059.3	-	23	4494	c.4243T>A	c.(4243-4245)Tgt>Agt	p.C1415S	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1415	TSP type-1 15.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TTCAAATAACAGTCACCTGTA	0.448000										HNSCC(18;0.044)			17	61					0	0	1	0	0
ZC3H14	79882	broad.mit.edu	37	14	89037454	89037454	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr14:89037454G>A	ENST00000251038.5	+	4	446	c.221G>A	c.(220-222)cGc>cAc	p.R74H	ZC3H14_ENST00000359301.3_Missense_Mutation_p.R40H|ZC3H14_ENST00000393514.5_Missense_Mutation_p.R74H|ZC3H14_ENST00000557607.1_5'UTR|ZC3H14_ENST00000555755.1_Missense_Mutation_p.R74H|ZC3H14_ENST00000336693.4_Missense_Mutation_p.R40H|ZC3H14_ENST00000302216.8_Missense_Mutation_p.R74H|ZC3H14_ENST00000556945.1_Missense_Mutation_p.R74H	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	74						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						GATAAACTTCGCTCTGTTACA	0.294000													30	79					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51901823	51901823	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr17:51901823G>A	ENST00000268919.4	+	1	1585	c.1429G>A	c.(1429-1431)Gcc>Acc	p.A477T		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	477					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GAGTCTTCTAGCCCTCAAAGA	0.507000													13	38					0	0	1	0	0
B3GNT1	11041	broad.mit.edu	37	11	66113655	66113655	+	Missense_Mutation	SNP	C	C	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:66113655C>A	ENST00000311181.4	-	2	1259	c.1113G>T	c.(1111-1113)ttG>ttT	p.L371F		NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1	371					poly-N-acetyllactosamine biosynthetic process	integral to Golgi membrane	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						CCTTATGAACCAAGAAACCTT	0.463000													25	65					1.66031e-10	1.84552e-10	1	1	0
HRH1	3269	broad.mit.edu	37	3	11300990	11300990	+	Silent	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr3:11300990C>G	ENST00000397056.1	+	3	458	c.267C>G	c.(265-267)ctC>ctG	p.L89L	HRH1_ENST00000438284.2_Silent_p.L89L|HRH1_ENST00000431010.2_Silent_p.L89L	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	89					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	TCTACCTGCTCATGTCCAAGT	0.557000													23	120					0	0	1	0	0
BCL9	607	broad.mit.edu	37	1	147090756	147090756	+	Silent	SNP	C	C	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr1:147090756C>A	ENST00000234739.3	+	8	1535	c.795C>A	c.(793-795)ccC>ccA	p.P265P		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	265	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CACCAGCACCCAAGCCTGCCG	0.602000			T	"""IGH@, IGL@"""	B-ALL								32	59					6.04164e-23	6.90827e-23	1	1	0
UBA6	55236	broad.mit.edu	37	4	68527946	68527946	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr4:68527946C>G	ENST00000322244.4	-	13	1124	c.1065G>C	c.(1063-1065)ttG>ttC	p.L355F	UBA6_ENST00000420827.2_Missense_Mutation_p.L355F	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	355					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						TTGCTAGTTTCAACAGTTCTT	0.333000													6	90					0	0	1	0	0
NMRK2	27231	broad.mit.edu	37	19	3942082	3942082	+	Splice_Site	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:3942082C>T	ENST00000168977.2	+	8	794	c.502_splice	c.e8-1	p.V168_splice	NMRK2_ENST00000599576.1_Splice_Site_p.L100_splice|NMRK2_ENST00000593949.1_Splice_Site_p.V173_splice	NM_170678.2	NP_733778.1			nicotinamide riboside kinase 2																		TGATTTCAGTCTACCTGGACG	0.617000													24	37					0	0	1	0	0
COMMD5	28991	broad.mit.edu	37	8	146076216	146076216	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr8:146076216G>A	ENST00000450361.2	-	2	929	c.508C>T	c.(508-510)Cgc>Tgc	p.R170C	COMMD5_ENST00000402718.3_Missense_Mutation_p.R170C|COMMD5_ENST00000305103.3_Missense_Mutation_p.R170C	NM_001081003.1	NP_001074472.1	Q9GZQ3	COMD5_HUMAN	COMM domain containing 5	170	COMM.					nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|ovary(1)|pancreas(1)	11	all_cancers(97;1.14e-11)|all_epithelial(106;7.74e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			TGCAGGGAGCGAGCCAGGGCA	0.617000													11	26					0	0	1	0	0
PCSK7	9159	broad.mit.edu	37	11	117100339	117100339	+	Silent	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:117100339C>T	ENST00000320934.3	-	3	852	c.222G>A	c.(220-222)gcG>gcA	p.A74A		NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	74					peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		CCAAGGCATCCGCCTGCTGCT	0.672000			T	IGH@	MLCLS								6	56					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41550658	41550658	+	Silent	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr8:41550658G>A	ENST00000396942.1	-	30	3677	c.3594C>T	c.(3592-3594)aaC>aaT	p.N1198N	ANK1_ENST00000352337.4_Silent_p.N1198N|ANK1_ENST00000396945.1_Silent_p.N1198N|ANK1_ENST00000379758.2_Silent_p.N1198N|ANK1_ENST00000347528.4_Silent_p.N1198N|ANK1_ENST00000265709.8_Silent_p.N1239N|ANK1_ENST00000289734.7_Silent_p.N1198N			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1198					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGGCGCACTCGTTGGCATATA	0.567000													40	139					0	0	1	0	0
OR10Q1	219960	broad.mit.edu	37	11	57995715	57995715	+	Silent	SNP	C	C	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:57995715C>A	ENST00000316770.2	-	1	675	c.633G>T	c.(631-633)gtG>gtT	p.V211V		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GGATGGTCAGCACGAGGATGC	0.622000													7	42					0.0381472	0.0384227	1	1	0
GRM1	2911	broad.mit.edu	37	6	146755545	146755545	+	Silent	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr6:146755545C>T	ENST00000361719.2	+	9	3668	c.3198C>T	c.(3196-3198)taC>taT	p.Y1066Y	GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000282753.1_Silent_p.Y1066Y|GRM1_ENST00000355289.4_3'UTR	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1066					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GGTCCCTGTACCCGCCCCCGC	0.692000													16	58					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34072457	34072457	+	Silent	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr15:34072457C>T	ENST00000389232.4	+	65	9253	c.9183C>T	c.(9181-9183)gcC>gcT	p.A3061A	RYR3_ENST00000415757.3_Silent_p.A3061A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3061					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGGCAGCTGCCATACCAGTGG	0.567000													13	33					0	0	1	0	0
MEF2C	4208	broad.mit.edu	37	5	88056904	88056904	+	Silent	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr5:88056904G>A	ENST00000340208.5	-	6	762	c.357C>T	c.(355-357)ccC>ccT	p.P119P	MEF2C_ENST00000514015.1_Intron|MEF2C_ENST00000503554.1_Intron|MEF2C_ENST00000539796.1_Intron|MEF2C_ENST00000506554.1_Intron|MEF2C_ENST00000510942.1_Intron|MEF2C_ENST00000514028.1_Intron|MEF2C_ENST00000437473.2_Intron|MEF2C_ENST00000508569.1_Intron|MEF2C_ENST00000424173.2_Silent_p.P99P|MEF2C_ENST00000504921.2_Intron	NM_001193347.1	NP_001180276.1	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	101					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		AGTCGGGATCGGGGCTTTCAC	0.373000										HNSCC(66;0.2)			26	35					0	0	1	0	0
CDR2	1039	broad.mit.edu	37	16	22358367	22358367	+	Silent	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr16:22358367C>T	ENST00000268383.2	-	5	1591	c.1284G>A	c.(1282-1284)gaG>gaA	p.E428E		NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	428						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		AACTAAAGATCTCCTTAAACA	0.458000													38	72					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578271	7578271	+	Missense_Mutation	SNP	T	T	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr17:7578271T>G	ENST00000420246.2	-	6	710	c.578A>C	c.(577-579)cAt>cCt	p.H193P	TP53_ENST00000413465.2_Missense_Mutation_p.H193P|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.H193P|TP53_ENST00000359597.4_Missense_Mutation_p.H193P|TP53_ENST00000455263.2_Missense_Mutation_p.H193P|TP53_ENST00000445888.2_Missense_Mutation_p.H193P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	193	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(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)		TCGGATAAGATGCTGAGGAGG	0.562000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			27	34					0	0	1	0	0
NPHS2	7827	broad.mit.edu	37	1	179544737	179544737	+	Missense_Mutation	SNP	C	C	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr1:179544737C>A	ENST00000367615.4	-	1	331	c.263G>T	c.(262-264)cGg>cTg	p.R88L	NPHS2_ENST00000367616.4_Missense_Mutation_p.R88L	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	88					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						TTCCTCGGGCCGCTCGCTCTC	0.652000													5	22					0.00307968	0.00317059	1	1	0
TAF15	8148	broad.mit.edu	37	17	34165524	34165524	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr17:34165524C>T	ENST00000588240.1	+	11	995	c.880C>T	c.(880-882)Cct>Tct	p.P294S	TAF15_ENST00000592237.1_Missense_Mutation_p.P203S|TAF15_ENST00000311979.3_Missense_Mutation_p.P291S	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	294	RRM.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TGATGACCCTCCTTCAGCTAA	0.408000			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""								14	166					0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17722620	17722620	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:17722620C>G	ENST00000428389.2	-	43	4866	c.4867G>C	c.(4867-4869)Gag>Cag	p.E1623Q	UNC13A_ENST00000519716.2_Missense_Mutation_p.E1535Q|UNC13A_ENST00000551649.1_Missense_Mutation_p.E1554Q|UNC13A_ENST00000552293.1_Missense_Mutation_p.E1529Q|UNC13A_ENST00000550896.1_Missense_Mutation_p.E1508Q|UNC13A_ENST00000252773.7_Missense_Mutation_p.E1535Q			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1535	C2 3.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GTGAACAGCTCAACATGGACA	0.542000													36	60					0	0	1	0	0
PGA3	643834	broad.mit.edu	37	11	60971074	60971074	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:60971074C>T	ENST00000325558.6	+	1	223	c.38C>T	c.(37-39)tCt>tTt	p.S13F		NM_001079807.1	NP_001073275.1			pepsinogen 3, group I (pepsinogen A)											endometrium(1)|lung(1)|ovary(1)|skin(2)	5						GTGGCACTCTCTGAGTGCATC	0.572000													4	74					0	0	1	0	0
RNF41	10193	broad.mit.edu	37	12	56600258	56600258	+	Missense_Mutation	SNP	T	T	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr12:56600258T>C	ENST00000345093.4	-	7	1296	c.927A>G	c.(925-927)atA>atG	p.I309M	RNF41_ENST00000394013.2_Missense_Mutation_p.I238M|RNF41_ENST00000552656.1_Missense_Mutation_p.I309M	NM_005785.3|NM_194359.2	NP_005776.1|NP_919340.1	Q9H4P4	RNF41_HUMAN	ring finger protein 41	309					apoptosis|induction of apoptosis|protein polyubiquitination|regulation of reactive oxygen species metabolic process		protein binding|protein tag|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	11						CATGCGCAAATATCATGACAA	0.532000											OREG0021921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	163					0	0	1	0	0
KDM3A	55818	broad.mit.edu	37	2	86684151	86684151	+	Missense_Mutation	SNP	A	A	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:86684151A>G	ENST00000409556.1	+	9	1165	c.800A>G	c.(799-801)aAt>aGt	p.N267S	KDM3A_ENST00000409064.1_Missense_Mutation_p.N267S|KDM3A_ENST00000312912.5_Missense_Mutation_p.N267S|KDM3A_ENST00000542128.1_Missense_Mutation_p.N215S			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	267					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						TCTTCTGAGAATAATGGAACC	0.363000													21	54					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240458175	240458175	+	Missense_Mutation	SNP	T	T	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr1:240458175T>C	ENST00000319653.9	+	8	4437	c.4207T>C	c.(4207-4209)Tat>Cat	p.Y1403H	FMN2_ENST00000545751.1_Intron	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1403	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TCAAGCTCTCTATGAGAATGT	0.368000													12	78					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25324246	25324246	+	RNA	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr15:25324246G>A	ENST00000549804.2	+	0	1377				SNORD116-13_ENST00000384408.1_RNA																							TTGGAAAGCTGAACAAAATGA	0.418000													49	144					0	0	1	0	0
NOLC1	9221	broad.mit.edu	37	10	103919277	103919277	+	Missense_Mutation	SNP	T	T	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr10:103919277T>A	ENST00000405356.1	+	7	1076	c.841T>A	c.(841-843)Tcc>Acc	p.S281T	NOLC1_ENST00000605788.1_Missense_Mutation_p.S271T|NOLC1_ENST00000488254.2_Missense_Mutation_p.S272T|NOLC1_ENST00000603742.1_5'UTR			Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	271	11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		TGAGGATTCCTCCAGTGACGA	0.517000													8	50					0	0	1	0	0
CHST1	8534	broad.mit.edu	37	11	45672336	45672336	+	Silent	SNP	C	C	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:45672336C>A	ENST00000308064.2	-	4	808	c.138G>T	c.(136-138)ctG>ctT	p.L46L		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	46					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		TCTCCTCGCACAGTCGCTCGG	0.662000													17	51					0.000132079	0.000139057	1	1	0
BRICD5	283870	broad.mit.edu	37	16	2259480	2259480	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr16:2259480C>G	ENST00000562360.1	-	5	665	c.666G>C	c.(664-666)gaG>gaC	p.E222D	BRICD5_ENST00000328540.3_Intron					BRICHOS domain containing 5																		TGCCGTGAATCTCCAAGGGCT	0.637000													21	59					0	0	1	0	0
TNRC18	84629	broad.mit.edu	37	7	5410492	5410492	+	Silent	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr7:5410492G>A	ENST00000399537.4	-	11	4081	c.3733C>T	c.(3733-3735)Ctg>Ttg	p.L1245L	TNRC18_ENST00000430969.1_Silent_p.L1245L			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1245							DNA binding			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)		TGCACCCCCAGGTCCAGGGCG	0.692000													14	22					0	0	1	0	0
ANKRD6	22881	broad.mit.edu	37	6	90331647	90331647	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr6:90331647C>T	ENST00000522441.1	+	10	1440	c.799C>T	c.(799-801)Cgc>Tgc	p.R267C	ANKRD6_ENST00000520793.1_Missense_Mutation_p.R208C|ANKRD6_ENST00000339746.4_Missense_Mutation_p.R267C|ANKRD6_ENST00000369408.5_Intron|ANKRD6_ENST00000447838.2_Missense_Mutation_p.R267C|LYRM2_ENST00000520441.1_Missense_Mutation_p.R75H	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	267							protein binding			NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		TCAGGTCTTGCGCTTCAGTCG	0.542000													24	21					0	0	1	0	0
VNN2	8875	broad.mit.edu	37	6	133078596	133078596	+	Silent	SNP	T	T	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr6:133078596T>A	ENST00000326499.6	-	2	427	c.303A>T	c.(301-303)ccA>ccT	p.P101P	VNN2_ENST00000525289.1_Silent_p.P101P|VNN2_ENST00000526192.1_5'UTR|VNN2_ENST00000525270.1_Silent_p.P48P	NM_004665.2	NP_004656.2	O95498	VNN2_HUMAN	vanin 2	101	CN hydrolase.				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		CCTGAGGGTCTGGGATATCCT	0.433000													25	54					0	0	1	0	0
GTSE1	51512	broad.mit.edu	37	22	46722505	46722505	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr22:46722505C>T	ENST00000454366.1	+	9	1890	c.1678C>T	c.(1678-1680)Cca>Tca	p.P560S		NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	541					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CCTGTGTGTGCCAGCTCGGAG	0.597000													13	57					0	0	1	0	0
HELB	92797	broad.mit.edu	37	12	66731855	66731855	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr12:66731855C>G	ENST00000247815.4	+	13	3296	c.3237C>G	c.(3235-3237)ttC>ttG	p.F1079L		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	1079					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GGCAACTTTTCAAGCCCACCG	0.343000													14	69					0	0	1	0	0
PNCK	139728	broad.mit.edu	37	X	152938024	152938024	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chrX:152938024C>T	ENST00000393831.2	-	3	631	c.197G>A	c.(196-198)cGt>cAt	p.R66H	PNCK_ENST00000447676.2_Missense_Mutation_p.R149H|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000370142.1_Missense_Mutation_p.R66H|PNCK_ENST00000370145.4_Missense_Mutation_p.R83H|PNCK_ENST00000370150.1_Missense_Mutation_p.R66H|PNCK_ENST00000340888.3_Missense_Mutation_p.R66H	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	66	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCGCACCTACGGAGCACTGC	0.677000													80	26					0	0	1	0	0
CYP7B1	9420	broad.mit.edu	37	8	65517355	65517355	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr8:65517355C>G	ENST00000310193.3	-	5	1290	c.1117G>C	c.(1117-1119)Gag>Cag	p.E373Q	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	373					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AAATCCTCCTCAACAAAACGA	0.438000													5	47					0	0	1	0	0
LIG4	3981	broad.mit.edu	37	13	108861130	108861130	+	Silent	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr13:108861130C>T	ENST00000356922.4	-	2	2759	c.2487G>A	c.(2485-2487)ctG>ctA	p.L829L	LIG4_ENST00000442234.1_Silent_p.L829L|LIG4_ENST00000405925.1_Silent_p.L829L	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	829	BRCT 2.				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TTTTGGTACTCAGGTCATTAA	0.428000								Non-homologous end-joining					20	81					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140807638	140807638	+	Silent	SNP	T	T	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr9:140807638T>C	ENST00000371372.1	+	4	682	c.537T>C	c.(535-537)ctT>ctC	p.L179L	CACNA1B_ENST00000371357.1_Silent_p.L179L|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Silent_p.L179L|CACNA1B_ENST00000371363.1_Silent_p.L179L|CACNA1B_ENST00000371355.4_Silent_p.L179L	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	179					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CCAGGATCCTTGCCACGGCTG	0.562000													24	28					0	0	1	0	0
RAB3A	5864	broad.mit.edu	37	19	18313528	18313528	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:18313528C>T	ENST00000222256.4	-	2	201	c.23G>A	c.(22-24)cGc>cAc	p.R8H	RAB3A_ENST00000464076.2_Intron	NM_002866.4	NP_002857.1	P20336	RAB3A_HUMAN	RAB3A, member RAS oncogene family	8					glutamate secretion|protein transport|small GTPase mediated signal transduction	clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|plasma membrane|synaptic vesicle	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	8						CTGCCCATAGCGCGAGTCTGT	0.587000											OREG0025360	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	50	134					0	0	1	0	0
VIT	5212	broad.mit.edu	37	2	36970262	36970262	+	Silent	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:36970262C>T	ENST00000379242.3	+	4	440	c.138C>T	c.(136-138)tgC>tgT	p.C46C	VIT_ENST00000401530.1_Silent_p.C46C|VIT_ENST00000404084.1_Silent_p.C24C|VIT_ENST00000457137.2_Silent_p.C46C|VIT_ENST00000379241.3_Silent_p.C46C|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000389975.3_Silent_p.C46C	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	46	LCCL.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				AGATCAACTGCGATGTCAAAG	0.438000													4	105					0	0	1	0	0
SLC12A7	10723	broad.mit.edu	37	5	1064267	1064267	+	Missense_Mutation	SNP	G	G	C	rs76539639	byFrequency	TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr5:1064267G>C	ENST00000264930.5	-	19	2581	c.2538C>G	c.(2536-2538)atC>atG	p.I846M		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	846					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	ACCACACGTCGATGTGGCCCC	0.687000													14	51					0	0	1	0	0
DERL2	51009	broad.mit.edu	37	17	5389406	5389406	+	Missense_Mutation	SNP	G	G	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr17:5389406G>C	ENST00000158771.4	-	1	131	c.76C>G	c.(76-78)Ctc>Gtc	p.L26V	DERL2_ENST00000572834.1_Missense_Mutation_p.L26V|DERL2_ENST00000571968.1_Intron|DERL2_ENST00000570848.1_Missense_Mutation_p.L26V	NM_016041.3	NP_057125.2	Q9GZP9	DERL2_HUMAN	derlin 2	26					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of cell growth|positive regulation of cell proliferation|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	protein binding			large_intestine(3)	3						GCGGTGGTGAGGACGCAGGCA	0.642000													22	49					0	0	1	0	0
KCNH4	23415	broad.mit.edu	37	17	40317679	40317679	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr17:40317679C>G	ENST00000264661.3	-	11	2205	c.1873G>C	c.(1873-1875)Gag>Cag	p.E625Q	KCNH4_ENST00000607371.1_Missense_Mutation_p.E625Q	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	625					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGCCCCGGCTCAGGGATATCT	0.577000													12	38					0	0	1	0	0
KDM2A	22992	broad.mit.edu	37	11	66982819	66982819	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:66982819C>G	ENST00000529006.2	+	7	941	c.495C>G	c.(493-495)ttC>ttG	p.F165L	KDM2A_ENST00000398645.2_Missense_Mutation_p.F165L|KDM2A_ENST00000526258.1_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	165	JmjC.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						AGGTGGATTTCATTGACTGGG	0.408000													7	16					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105407698	105407698	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr14:105407698G>A	ENST00000333244.5	-	7	14209	c.14090C>T	c.(14089-14091)tCg>tTg	p.S4697L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4697						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTTAAACTTCGAATCCATTCC	0.403000													45	35					0	0	1	0	0
PCED1A	64773	broad.mit.edu	37	20	2819522	2819522	+	Silent	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr20:2819522C>T	ENST00000360652.2	-	4	913	c.411G>A	c.(409-411)gtG>gtA	p.V137V	PCED1A_ENST00000356872.3_Silent_p.V86V	NM_022760.3	NP_073597.2			PC-esterase domain containing 1A																		AGTTGATGATCACCAGGTCCG	0.572000													9	130					0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44944452	44944452	+	Silent	SNP	T	T	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr15:44944452T>C	ENST00000261866.7	-	5	898	c.882A>G	c.(880-882)ggA>ggG	p.G294G	SPG11_ENST00000558319.1_Silent_p.G294G|SPG11_ENST00000535302.2_Silent_p.G294G|SPG11_ENST00000559193.1_Silent_p.G294G|SPG11_ENST00000427534.2_Silent_p.G294G	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	294					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		ACAGTAGGTGTCCTGGGTGTT	0.363000													18	47					0	0	1	0	0
MFSD12	126321	broad.mit.edu	37	19	3551007	3551007	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:3551007C>T	ENST00000355415.2	-	2	653	c.484G>A	c.(484-486)Gag>Aag	p.E162K	MFSD12_ENST00000591878.1_5'UTR|AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000398558.4_Missense_Mutation_p.E162K|MFSD12_ENST00000389395.3_Missense_Mutation_p.E162K	NM_174983.3	NP_778148.2	Q6NUT3	CS028_HUMAN	major facilitator superfamily domain containing 12	162					transmembrane transport	integral to membrane				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						TCCACCTTCTCATGGTCGTTG	0.627000													4	20					0	0	1	0	0
NR2F2	7026	broad.mit.edu	37	15	96877672	96877672	+	Silent	SNP	G	G	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr15:96877672G>T	ENST00000394166.3	+	2	2199	c.810G>T	c.(808-810)ctG>ctT	p.L270L	NR2F2_ENST00000421109.2_Silent_p.L137L|NR2F2_ENST00000453270.2_Silent_p.L117L|NR2F2_ENST00000394171.2_Silent_p.L117L	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	270	Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			CCCCGCTCCTGGCCGCCGCCG	0.642000													7	57					8.12818e-05	8.62267e-05	1	1	0
SLC35G3	146861	broad.mit.edu	37	17	33520722	33520722	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr17:33520722G>A	ENST00000297307.5	-	1	690	c.605C>T	c.(604-606)gCg>gTg	p.A202V		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	202						integral to membrane											CAGGGACAGCGCCAGGCCTCC	0.607000													48	144					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963981	88963981	+	Missense_Mutation	SNP	A	A	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr7:88963981A>G	ENST00000333190.4	+	4	2294	c.1685A>G	c.(1684-1686)aAt>aGt	p.N562S		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	562						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TCTGAGCCAAATAAGAGTGAA	0.353000										HNSCC(36;0.09)			27	59					0	0	1	0	0
OR4D11	219986	broad.mit.edu	37	11	59271951	59271951	+	Silent	SNP	G	G	A	rs116174674	by1000genomes	TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:59271951G>A	ENST00000313253.1	+	1	903	c.903G>A	c.(901-903)ctG>ctA	p.L301L		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						TGAGAAGACTGAAGAGAAGAC	0.522000													17	29					0	0	1	0	0
AGAP11	119385	broad.mit.edu	37	10	88768491	88768491	+	RNA	SNP	A	A	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr10:88768491A>G	ENST00000444431.1	+	0	3091				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										TTAGGTGATTATATGAAGAAT	0.443000													112	177					0	0	1	0	0
SLC13A3	64849	broad.mit.edu	37	20	45221067	45221067	+	Missense_Mutation	SNP	A	A	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr20:45221067A>T	ENST00000279027.4	-	6	914	c.896T>A	c.(895-897)tTc>tAc	p.F299Y	SLC13A3_ENST00000413164.2_Missense_Mutation_p.F249Y|SLC13A3_ENST00000396360.1_Missense_Mutation_p.F252Y|SLC13A3_ENST00000495082.1_Missense_Mutation_p.F252Y|SLC13A3_ENST00000472148.1_Missense_Mutation_p.F252Y|SLC13A3_ENST00000372121.1_Missense_Mutation_p.F249Y|SLC13A3_ENST00000290317.5_Missense_Mutation_p.F252Y|SLC13A3_ENST00000435032.1_5'UTR	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	299						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	CCCGTACAGGAAGGAGATCCA	0.502000													24	87					0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55449431	55449431	+	Missense_Mutation	SNP	A	A	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:55449431A>C	ENST00000446217.1	-	7	2596	c.2194T>G	c.(2194-2196)Tgt>Ggt	p.C732G	NLRP7_ENST00000340844.2_Missense_Mutation_p.C704G|NLRP7_ENST00000328092.5_Missense_Mutation_p.C676G|NLRP7_ENST00000592784.1_Missense_Mutation_p.C704G|NLRP7_ENST00000590030.1_Missense_Mutation_p.C704G|NLRP7_ENST00000588756.1_Missense_Mutation_p.C704G|NLRP7_ENST00000448121.2_Missense_Mutation_p.C676G			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	704							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TGCAGATGACAGGTGCTACGG	0.428000													95	202					0	0	1	0	0
KIAA0753	9851	broad.mit.edu	37	17	6498368	6498368	+	Silent	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr17:6498368G>A	ENST00000361413.3	-	16	2722	c.2364C>T	c.(2362-2364)taC>taT	p.Y788Y	KIAA0753_ENST00000589033.1_Silent_p.Y244Y|KIAA0753_ENST00000542606.1_Silent_p.Y489Y|KIAA0753_ENST00000575027.1_5'UTR|KIAA0753_ENST00000572370.1_Silent_p.Y489Y	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	788						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		CAGACTCCTGGTATTTCTTTA	0.328000													17	52					0	0	1	0	0
GTDC1	79712	broad.mit.edu	37	2	144714808	144714808	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:144714808C>T	ENST00000409214.1	-	9	1362	c.1084G>A	c.(1084-1086)Gat>Aat	p.D362N	GTDC1_ENST00000344850.4_Missense_Mutation_p.D362N|GTDC1_ENST00000392867.3_Intron|GTDC1_ENST00000392869.1_Missense_Mutation_p.D362N|GTDC1_ENST00000463875.2_Missense_Mutation_p.D233N|GTDC1_ENST00000542155.1_Missense_Mutation_p.D362N|AC016910.1_ENST00000422799.1_RNA|GTDC1_ENST00000409298.1_Missense_Mutation_p.D244N|GTDC1_ENST00000241391.5_Intron	NM_001006636.3	NP_001006637.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	362					biosynthetic process		transferase activity, transferring glycosyl groups			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		ATGACAACATCAGCCATGCAC	0.388000													14	57					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141708351	141708351	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr7:141708351G>A	ENST00000475668.2	+	3	227	c.173G>A	c.(172-174)gGt>gAt	p.G58D	MGAM_ENST00000549489.2_Missense_Mutation_p.G58D			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	58	Ser/Thr-rich.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GGGACAACTGGTACCCCAGAT	0.478000													6	15					0	0	1	0	0
CPSF6	11052	broad.mit.edu	37	12	69650523	69650523	+	Missense_Mutation	SNP	A	A	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr12:69650523A>G	ENST00000435070.2	+	4	531	c.421A>G	c.(421-423)Atg>Gtg	p.M141V	CPSF6_ENST00000456847.3_Missense_Mutation_p.M141V|CPSF6_ENST00000266679.8_Missense_Mutation_p.M141V|CPSF6_ENST00000551516.1_Intron	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	141	Necessary for interaction with NUDT21/CPSF5.|RRM.				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			AAAAAAGTTAATGGATCTGTT	0.358000													42	72					0	0	1	0	0
FNBP4	23360	broad.mit.edu	37	11	47765672	47765672	+	Missense_Mutation	SNP	C	C	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:47765672C>A	ENST00000263773.5	-	8	1301	c.1289G>T	c.(1288-1290)gGg>gTg	p.G430V	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	430										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						TGGACTAGACCCTGACACACT	0.418000													22	48					1.28384e-07	1.39918e-07	1	1	0
ACSM4	341392	broad.mit.edu	37	12	7475033	7475033	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr12:7475033C>T	ENST00000399422.4	+	7	1069	c.1021C>T	c.(1021-1023)Cgg>Tgg	p.R341W		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	341					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						CAAGAGTCTGCGGCACTGCTT	0.512000													20	49					0	0	1	0	0
SNPH	9751	broad.mit.edu	37	20	1285872	1285872	+	Missense_Mutation	SNP	A	A	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr20:1285872A>G	ENST00000381867.1	+	7	1433	c.791A>G	c.(790-792)gAc>gGc	p.D264G	SNPH_ENST00000381873.3_Missense_Mutation_p.D220G			O15079	SNPH_HUMAN	syntaphilin	220					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AAGCTGAGTGACCCGGCTGTC	0.662000													7	21					0	0	1	0	0
UNC50	25972	broad.mit.edu	37	2	99226188	99226188	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:99226188C>T	ENST00000409975.1	+	1	1147	c.17C>T	c.(16-18)aCg>aTg	p.T6M	UNC50_ENST00000409347.1_Missense_Mutation_p.T6M|UNC50_ENST00000357765.2_Intron			Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	0					protein transport	Golgi membrane|integral to membrane|nuclear inner membrane	RNA binding			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						CTTCAGAATACGTGTAAAAGA	0.453000													5	304					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170042104	170042104	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:170042104C>G	ENST00000263816.3	-	50	10039	c.9754G>C	c.(9754-9756)Gag>Cag	p.E3252Q		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3252					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AACATTCTCTCAATGACTTGC	0.413000													28	68					0	0	1	0	0
ATP2B3	492	broad.mit.edu	37	X	152815728	152815728	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chrX:152815728G>A	ENST00000370186.1	+	10	2091	c.1765G>A	c.(1765-1767)Gag>Aag	p.E589K	ATP2B3_ENST00000349466.2_Missense_Mutation_p.E603K|ATP2B3_ENST00000393842.1_Missense_Mutation_p.E589K|ATP2B3_ENST00000370181.2_Missense_Mutation_p.E589K|ATP2B3_ENST00000359149.3_Missense_Mutation_p.E603K|ATP2B3_ENST00000263519.4_Missense_Mutation_p.E603K			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	603					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGGGCCTCAGAGATCCTCTT	0.537000													37	63					0	0	1	0	0
C1orf172	126695	broad.mit.edu	37	1	27278035	27278035	+	Silent	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr1:27278035G>A	ENST00000320567.5	-	2	925	c.837C>T	c.(835-837)atC>atT	p.I279I		NM_152365.2	NP_689578.2	Q8NAX2	CA172_HUMAN	chromosome 1 open reading frame 172	279										NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		TGATGCTGCTGATAAGGTCCG	0.562000													14	31					0	0	1	0	0
KIAA0586	9786	broad.mit.edu	37	14	58909589	58909589	+	Silent	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr14:58909589G>A	ENST00000423743.3	+	6	702	c.444G>A	c.(442-444)ccG>ccA	p.P148P	KIAA0586_ENST00000261244.5_Silent_p.P192P|KIAA0586_ENST00000354386.6_Silent_p.P245P|KIAA0586_ENST00000556134.1_Silent_p.P177P|KIAA0586_ENST00000538571.2_3'UTR	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	192										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCGCAGCTCCGTTGATAAAGG	0.403000													10	21					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45303855	45303855	+	Silent	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr5:45303855C>T	ENST00000303230.4	-	6	1521	c.1464G>A	c.(1462-1464)ctG>ctA	p.L488L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	488						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TCAACTTGCTCAGCATGGCAG	0.418000													41	152					0	0	1	0	0
ZBTB41	360023	broad.mit.edu	37	1	197128584	197128584	+	Missense_Mutation	SNP	G	G	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr1:197128584G>C	ENST00000367405.4	-	10	2703	c.2635C>G	c.(2635-2637)Cta>Gta	p.L879V	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	879					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						CTAGGATCTAGCATTTGTTCA	0.383000													31	144					0	0	1	0	0
ZNF551	90233	broad.mit.edu	37	19	58196690	58196690	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:58196690G>A	ENST00000282296.5	+	2	327	c.142G>A	c.(142-144)Gag>Aag	p.E48K	AC003006.7_ENST00000596085.1_Missense_Mutation_p.E32K|ZNF551_ENST00000356715.4_Missense_Mutation_p.E32K|ZNF551_ENST00000599402.1_Intron|AC003006.7_ENST00000599221.1_Intron	NM_001270938.1	NP_001257867.1	Q7Z340	ZN551_HUMAN	zinc finger protein 551	48	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GCTCCTTGATGAGTCTCAGAG	0.502000													64	144					0	0	1	0	0
SEC31A	22872	broad.mit.edu	37	4	83801962	83801962	+	Missense_Mutation	SNP	A	A	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr4:83801962A>G	ENST00000432794.1	-	3	356	c.193T>C	c.(193-195)Tct>Cct	p.S65P	SEC31A_ENST00000505984.1_Missense_Mutation_p.S65P|SEC31A_ENST00000500777.2_Missense_Mutation_p.S65P|SEC31A_ENST00000448323.1_Missense_Mutation_p.S65P|SEC31A_ENST00000443462.2_Missense_Mutation_p.S60P|SEC31A_ENST00000355196.2_Missense_Mutation_p.S65P|SEC31A_ENST00000348405.4_Missense_Mutation_p.S65P|SEC31A_ENST00000395310.2_Missense_Mutation_p.S65P|SEC31A_ENST00000326950.5_Missense_Mutation_p.S65P|SEC31A_ENST00000505472.1_Missense_Mutation_p.S65P|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000508479.1_Missense_Mutation_p.S65P|SEC31A_ENST00000513858.1_Missense_Mutation_p.S65P|SEC31A_ENST00000509142.1_Missense_Mutation_p.S65P|SEC31A_ENST00000311785.7_Missense_Mutation_p.S65P|SEC31A_ENST00000508502.1_Missense_Mutation_p.S65P			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	65					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				CTGTGAGAAGAGGAGAATGTG	0.328000													39	81					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62293496	62293496	+	Nonsense_Mutation	SNP	G	G	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:62293496G>C	ENST00000378024.4	-	5	8667	c.8393C>G	c.(8392-8394)tCa>tGa	p.S2798*	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2798					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTTCGGTCCTGAGACATCAAT	0.458000													28	297					0	0	1	0	0
SHOC2	8036	broad.mit.edu	37	10	112764471	112764471	+	Silent	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr10:112764471C>G	ENST00000369452.4	+	5	1425	c.1080C>G	c.(1078-1080)ctC>ctG	p.L360L	SHOC2_ENST00000265277.5_Silent_p.L314L|SHOC2_ENST00000489390.1_3'UTR	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	360					fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		TCTATTCCCTCAACATGGAAC	0.353000													5	88					0	0	1	0	0
SAPCD2	89958	broad.mit.edu	37	9	139960053	139960053	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr9:139960053C>T	ENST00000409687.3	-	3	879	c.752G>A	c.(751-753)cGg>cAg	p.R251Q		NM_178448.3	NP_848543.2	Q86UD0	CI140_HUMAN	suppressor APC domain containing 2	251						cytoplasm|nucleus											GTCGCGGCCCCGCGCCATCAT	0.637000													38	76					0	0	1	0	0
CEMP1	752014	broad.mit.edu	37	16	2580737	2580737	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr16:2580737C>T	ENST00000382350.1	-	1	683	c.338G>A	c.(337-339)aGg>aAg	p.R113K	AMDHD2_ENST00000565570.1_3'UTR|CEMP1_ENST00000567119.1_Missense_Mutation_p.R113K|AMDHD2_ENST00000413459.3_Silent_p.L588L|AMDHD2_ENST00000302956.4_3'UTR|CEMP1_ENST00000565480.1_Intron			Q6PRD7	CEMP1_HUMAN	cementum protein 1	113						cytoplasm				lung(1)|skin(1)	2						GAAGAACCACCTGCCTGGGCA	0.632000													5	24					0	0	1	0	0
CKAP2	26586	broad.mit.edu	37	13	53035910	53035910	+	Missense_Mutation	SNP	A	A	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr13:53035910A>G	ENST00000378037.5	+	4	1042	c.952A>G	c.(952-954)Ata>Gta	p.I318V	CKAP2_ENST00000258607.5_Missense_Mutation_p.I317V|CKAP2_ENST00000490903.1_Missense_Mutation_p.I269V|CKAP2_ENST00000378034.3_Missense_Mutation_p.I317V	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3	Q8WWK9	CKAP2_HUMAN	cytoskeleton associated protein 2	318					apoptosis|cell cycle	centrosome|microtubule|spindle pole				breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		ATCAAGATCCATAGCATCTGA	0.383000													15	107					0	0	1	0	0
FBLN5	10516	broad.mit.edu	37	14	92403509	92403509	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr14:92403509C>T	ENST00000267620.10	-	5	453	c.284G>A	c.(283-285)cGa>cAa	p.R95Q	FBLN5_ENST00000556154.1_Missense_Mutation_p.R59Q|FBLN5_ENST00000342058.4_Missense_Mutation_p.R54Q			Q9UBX5	FBLN5_HUMAN	fibulin 5	54					cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				CATGTCTCCTCGGCAGGCCTC	0.537000													24	43					0	0	1	0	0
RIOK2	55781	broad.mit.edu	37	5	96503502	96503502	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr5:96503502G>A	ENST00000283109.3	-	8	1134	c.1066C>T	c.(1066-1068)Cgg>Tgg	p.R356W	RIOK2_ENST00000508447.1_Missense_Mutation_p.R356W|CTD-2215E18.1_ENST00000509481.1_Intron	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	356	Protein kinase.						ATP binding|protein serine/threonine kinase activity	p.R356W(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		AGACAGTTCCGTTCACTTTCA	0.403000													46	88					0	0	1	0	0
C17orf66	256957	broad.mit.edu	37	17	34186002	34186002	+	Missense_Mutation	SNP	C	C	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr17:34186002C>T	ENST00000311880.2	-	9	977	c.829G>A	c.(829-831)Gca>Aca	p.A277T	C17orf66_ENST00000592980.1_Missense_Mutation_p.A237T	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN	chromosome 17 open reading frame 66	277							binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		TCCAGAGATGCTTCACTGGAC	0.552000													14	56					0	0	1	0	0
FAM21C	253725	broad.mit.edu	37	10	46222968	46222968	+	Nonsense_Mutation	SNP	C	C	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr10:46222968C>A	ENST00000336378.4	+	2	225	c.107C>A	c.(106-108)tCg>tAg	p.S36*	FAM21C_ENST00000537517.1_Nonsense_Mutation_p.S36*|FAM21C_ENST00000540872.1_Nonsense_Mutation_p.S36*|FAM21C_ENST00000374362.2_Nonsense_Mutation_p.S36*|FAM21C_ENST00000359860.4_Nonsense_Mutation_p.S35*	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN	family with sequence similarity 21, member C	36										central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						CAGAGCTGGTCGCTGGCGGCC	0.761000													3	23					0.004672	0.00479224	1	1	0
HIST1H2BJ	8970	broad.mit.edu	37	6	27100220	27100220	+	Missense_Mutation	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr6:27100220G>A	ENST00000607124.1	-	1	309	c.310C>T	c.(310-312)Cct>Tct	p.P104S	HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.P104S|HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.P104S			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	104					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						AACTCCCCAGGCAGCAGCAGG	0.602000													54	103					0	0	1	0	0
LRRN3	54674	broad.mit.edu	37	7	110763396	110763396	+	Missense_Mutation	SNP	C	C	G			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr7:110763396C>G	ENST00000451085.1	+	4	1614	c.568C>G	c.(568-570)Cta>Gta	p.L190V	LRRN3_ENST00000308478.5_Missense_Mutation_p.L190V|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000437687.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.L190V|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000452895.1_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	190						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TCTTCCAAATCTAGAGATTCT	0.373000													27	82					0	0	1	0	0
SHQ1	55164	broad.mit.edu	37	3	72890271	72890271	+	Silent	SNP	T	T	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr3:72890271T>C	ENST00000325599.8	-	4	550	c.411A>G	c.(409-411)gtA>gtG	p.V137V	SHQ1_ENST00000463369.1_Silent_p.V109V	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	137					ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		CACTTTCTGATACCTCTTCAC	0.408000													36	44					0	0	1	0	0
ZNF583	147949	broad.mit.edu	37	19	56935034	56935034	+	Missense_Mutation	SNP	G	G	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:56935034G>T	ENST00000333201.9	+	5	1217	c.1007G>T	c.(1006-1008)gGt>gTt	p.G336V	ZNF583_ENST00000585612.1_3'UTR|ZNF583_ENST00000291598.7_Missense_Mutation_p.G336V	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	336					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		TTTAGTAATGGTTCATTTCTT	0.423000													22	62					0.00229938	0.00237602	1	1	0
RPL10A	4736	broad.mit.edu	37	6	35436775	35436775	+	Silent	SNP	G	G	A			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr6:35436775G>A	ENST00000322203.6	+	3	159	c.132G>A	c.(130-132)caG>caA	p.Q44Q	RPL10A_ENST00000467020.1_3'UTR	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN	ribosomal protein L10a	44					anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	RNA binding|structural constituent of ribosome			breast(1)|large_intestine(2)|ovary(1)	4						ATGATCCCCAGAAGGACAAGC	0.652000													12	38					0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887527	12887527	+	Silent	SNP	A	A	G	rs2486716		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr1:12887527A>G	ENST00000535591.1	-	3	525	c.330T>C	c.(328-330)ttT>ttC	p.F110F		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	110								p.F110F(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						AAAGTTCTACAAACACAGTCA	0.498000													13	267					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126238943	126238943	+	Silent	SNP	A	A	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr4:126238943A>T	ENST00000394329.3	+	1	1390	c.1377A>T	c.(1375-1377)gcA>gcT	p.A459A		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	459	Cadherin 4.				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						CTTCTGTGGCAAGCCTGGTGA	0.567000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	47					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57328508	57328508	+	Silent	SNP	G	G	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:57328508G>C	ENST00000326441.9	-	10	1665	c.1302C>G	c.(1300-1302)ctC>ctG	p.L434L	ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Silent_p.L434L|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Silent_p.L308L|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Silent_p.L310L|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	434					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AGGGGGAGCTGAGGCTGCTCA	0.502000													49	116					0	0	1	0	0
LPPR4	9890	broad.mit.edu	37	1	99730036	99730036	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr1:99730036delG	ENST00000370185.3	+	1	528	c.31delG	c.(31-33)ggfs	p.G11fs	LPPR4_ENST00000457765.1_Frame_Shift_Del_p.G11fs	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		11							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CGGTGGCCGCGGGGAATGTGA	0.716													2	4	---	---	---	---					
RP11-423O2.5	0	broad.mit.edu	37	1	142803276	142803278	+	RNA	DEL	AAC	AAC	-			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr1:142803276_142803278delAAC	ENST00000423385.1	-	0	1687_1689																											ACCAAACCAAaacaacaacaaca	0.345													3	6	---	---	---	---					
LOC101927533	101927533	broad.mit.edu	37	2	65738862	65738863	+	RNA	DEL	TG	TG	-			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr2:65738862_65738863delTG	ENST00000377977.3	+	0	862																											TTTTTTTTTTTGTCCAGGAGGC	0.302													2	4	---	---	---	---					
SETD2	29072	broad.mit.edu	37	3	47144912	47144917	+	Splice_Site	DEL	ATCTGG	ATCTGG	-			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr3:47144912_47144917delATCTGG	ENST00000409792.3	-	7	4882_4883	c.4839_splice	c.e7-1	p.1614_splice		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1614	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GGCATCTATTATCTGGGAGAAGAGGA	0.316			"""N, F, S, Mis"""		clear cell renal carcinoma								22	77	---	---	---	---					
COL6A6	131873	broad.mit.edu	37	3	130368102	130368102	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr3:130368102delG	ENST00000358511.6	+	32	5460	c.5429delG	c.(5428-5430)agfs	p.R1810fs	COL6A6_ENST00000453409.2_Frame_Shift_Del_p.R1810fs	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1810	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TCCCACGCCAGGCACCTTGTG	0.527													7	16	---	---	---	---					
NAALADL2	254827	broad.mit.edu	37	3	174815058	174815068	+	Frame_Shift_Del	DEL	AGAAGATATTA	AGAAGATATTA	-			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr3:174815058_174815068delAGAAGATATTA	ENST00000454872.1	+	2	650_660	c.522_532delAGAAGATATTA	c.(520-534)gcagfs	p.AEDIK174fs	NAALADL2_ENST00000473253.1_3'UTR|NAALADL2-AS3_ENST00000453180.1_RNA	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	174					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CAATCCAGGCAGAAGATATTAAGAAGTCTTT	0.374													17	145	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187522473	187522490	+	In_Frame_Del	DEL	TGGAATATGTTCTGAGCC	TGGAATATGTTCTGAGCC	-	rs79448797		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr4:187522473_187522490delTGGAATATGTTCTGAGCC	ENST00000441802.2	-	21	11782_11799	c.11573_11590delGGCTCAGAACATATTCCA	c.(11572-11592)acg>a	p.RLRTYST3858del		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3858	Laminin G-like.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACCGCATGCGTGGAATATGTTCTGAGCCTCATGGTCAG	0.427										HNSCC(5;0.00058)			11	35	---	---	---	---					
TPBG	7162	broad.mit.edu	37	6	83074698	83074698	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr6:83074698delG	ENST00000369750.3	+	2	637	c.20delG	c.(19-21)cgfs	p.R7fs	TPBG_ENST00000543496.1_Frame_Shift_Del_p.R7fs|TPBG_ENST00000535040.1_Frame_Shift_Del_p.R7fs			Q13641	TPBG_HUMAN	trophoblast glycoprotein	7					cell adhesion	integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		GGGTGCTcccggggccccgcc	0.766													2	4	---	---	---	---					
ZNF367	195828	broad.mit.edu	37	9	99180258	99180259	+	In_Frame_Ins	INS	-	-	GGC			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr9:99180258_99180259insGGC	ENST00000375256.4	-	1	352_353	c.56_57insGCC	c.(55-57)cgt>cGCCgt	p.19_19R>RR		NM_153695.3	NP_710162.1	Q7RTV3	ZN367_HUMAN	zinc finger protein 367	19	Pro-rich.				regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12		Acute lymphoblastic leukemia(62;0.0167)				AGAAGATGACGggcggcggcgg	0.752													7	12	---	---	---	---					
AHNAK	79026	broad.mit.edu	37	11	62291072	62291086	+	In_Frame_Del	DEL	TTCACTTTGGGCATC	TTCACTTTGGGCATC	-	rs145179465		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:62291072_62291086delTTCACTTTGGGCATC	ENST00000378024.4	-	5	11077_11091	c.10803_10817delGATGCCCAAAGTGAA	c.(10801-10818)aaa>aa	p.KMPKVK3601del	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3601					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTGGGCATTTTCACTTTGGGCATCTTCAGATGCC	0.488													92	391	---	---	---	---					
KIAA1377	57562	broad.mit.edu	37	11	101834519	101834525	+	Frame_Shift_Del	DEL	ATCCGTC	ATCCGTC	-			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr11:101834519_101834525delATCCGTC	ENST00000263468.8	+	6	3023_3029	c.2753_2759delATCCGTC	c.(2752-2760)ttfs	p.YPS918fs	KIAA1377_ENST00000537689.1_Frame_Shift_Del_p.YPS719fs	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	918							protein binding	p.P919P(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GAAGAAAGTTATCCGTCTGTGACTCTA	0.396													42	162	---	---	---	---					
ALG10	84920	broad.mit.edu	37	12	34179606	34179606	+	Frame_Shift_Del	DEL	T	T	-			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr12:34179606delT	ENST00000266483.2	+	3	1497	c.1178delT	c.(1177-1179)atfs	p.I393fs	RP11-847H18.2_ENST00000501954.2_RNA|ALG10_ENST00000538927.1_Intron	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	393					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				TCAAAGTCAATTTTTTGGAAT	0.299													69	93	---	---	---	---					
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282																											AGGAAGGTTCTAAAAAAAATTT	0.252													3	5	---	---	---	---					
SLC24A1	9187	broad.mit.edu	37	15	65918177	65918179	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr15:65918177_65918179delCTG	ENST00000261892.6	+	2	2046_2048	c.1759_1761delCTG	c.(1759-1761)del	p.L591del	SLC24A1_ENST00000339868.6_In_Frame_Del_p.L591del|SLC24A1_ENST00000546330.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000537259.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.L591del|SLC24A1_ENST00000544319.2_In_Frame_Del_p.L591del	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	591					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GTGGGAGAGCCTGCTGCTGCTGC	0.547													9	97	---	---	---	---					
ABCA17P	650655	broad.mit.edu	37	16	2475097	2475098	+	RNA	DEL	TC	TC	-			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr16:2475097_2475098delTC	ENST00000469908.1	+	0	3047					NR_003574.1																						GGTAActctgtctctctctctc	0.559													3	4	---	---	---	---					
FAM92B	339145	broad.mit.edu	37	16	85143886	85143900	+	In_Frame_Del	DEL	GGTGGCCCGCAGCTC	GGTGGCCCGCAGCTC	-	rs35834733		TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr16:85143886_85143900delGGTGGCCCGCAGCTC	ENST00000539556.1	-	2	342_356	c.187_201delGAGCTGCGGGCCACC	c.(187-201)del	p.ELRAT63del		NM_198491.1	NP_940893.1	Q6ZTR7	FA92B_HUMAN	family with sequence similarity 92, member B	63										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						AGCCCCTCATGGTGGCCCGCAGCTCGGGGTTCTCG	0.679													8	52	---	---	---	---					
SPAG7	9552	broad.mit.edu	37	17	4863018	4863027	+	Frame_Shift_Del	DEL	CCTCTCCCAG	CCTCTCCCAG	-			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr17:4863018_4863027delCCTCTCCCAG	ENST00000575142.1	-	6	587_596	c.569_578delCTGGGAGAGG	c.(568-579)gafs	p.AGRG190fs	SPAG7_ENST00000573366.1_Intron|SPAG7_ENST00000206020.3_Intron			O75391	SPAG7_HUMAN	sperm associated antigen 7	0						nucleus	nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						ATCCTATGCTCCTCTCCCAGCCACCCCCAG	0.633													38	183	---	---	---	---					
SPAG7	9552	broad.mit.edu	37	17	4863350	4863351	+	Frame_Shift_Ins	INS	-	-	T			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr17:4863350_4863351insT	ENST00000573366.1	-	5	1088_1089	c.230_231insA	c.(229-231)gccfs	p.A77fs	SPAG7_ENST00000575142.1_Frame_Shift_Ins_p.A117fs|SPAG7_ENST00000206020.3_Frame_Shift_Ins_p.A128fs			O75391	SPAG7_HUMAN	sperm associated antigen 7	128	R3H.					nucleus	nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						CCTTCTGGGGGTCCCATTCCTC	0.554													59	183	---	---	---	---					
DOCK6	57572	broad.mit.edu	37	19	11364313	11364314	+	Splice_Site	INS	-	-	C			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:11364313_11364314insC	ENST00000294618.7	-	2	144		c.e2+1			NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6						blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CCAAATACTTACCCCCAGGGAG	0.663													2	4	---	---	---	---					
CTC-260E6.6	0	broad.mit.edu	37	19	20361495	20361495	+	RNA	DEL	G	G	-			TCGA-WA-A7GZ-01A-11D-A34J-08	TCGA-WA-A7GZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc683fd6-3226-46c5-9cd6-9116e4061872	34b77b70-da40-46e6-bb55-411741afec5b	g.chr19:20361495delG	ENST00000593655.1	-	0	199																											ccaacatggtgaaacctcgtc	0.468													2	4	---	---	---	---