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
C5orf51	285636	broad.mit.edu	37	5	41904475	41904475	+	Silent	SNP	G	G	C			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr5:41904475G>C	uc003jmo.3	+	0	6	c.6G>C	c.(4-6)gcG>gcC	p.A2A		NM_175921	NP_787117	A6NDU8	CE051_HUMAN	Homo sapiens chromosome 5 open reading frame 51 (C5orf51), mRNA.	2										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						TGGCCATGGCGGCCGCAGTCT	0.662000													14	21					0	0	1	0	0
CAPN3	825	broad.mit.edu	37	15	42693949	42693949	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr15:42693949C>G	uc001zpn.1	+	10	1771	c.1465C>G	c.(1465-1467)Cgg>Ggg	p.R489G	CAPN3_uc001zpk.1_Missense_Mutation_p.R262G|CAPN3_uc001zpl.1_Missense_Mutation_p.R402G|CAPN3_uc010udf.1_Missense_Mutation_p.R402G|CAPN3_uc010udg.1_Missense_Mutation_p.R354G|CAPN3_uc001zpo.1_Missense_Mutation_p.R489G|CAPN3_uc001zpp.1_Missense_Mutation_p.R441G|CAPN3_uc001zpq.1_5'Flank	NM_000070	NP_000061	P20807	CAN3_HUMAN	Homo sapiens calpain 3, (p94) (CAPN3), transcript variant 1, mRNA.	489	Domain III.		R -> Q (in LGMD2A).|R -> W (in LGMD2A).		muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		GCAGAAGAACCGGCGGAAGGA	0.572000													10	39					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68413534	68413534	+	RNA	SNP	G	G	A			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr9:68413534G>A	uc004aex.3	+	0		c.89G>A								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		TTCCAGCAAAGCGGGCTCTTC	0.617000													3	19					0	0	1	0	0
MFI2	4241	broad.mit.edu	37	3	196736583	196736583	+	Silent	SNP	G	G	A			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr3:196736583G>A	uc003fxk.4	-	10	1545	c.1431C>T	c.(1429-1431)caC>caT	p.H477H		NM_005929	NP_005920	P08582	TRFM_HUMAN	Homo sapiens antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 (MFI2), transcript variant 1, mRNA.	477	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		CGAAACCGGCGTGGCAGGAGC	0.637000													51	28					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164908297	164908297	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr3:164908297G>T	uc003fej.4	-	1	766	c.322C>A	c.(322-324)Ctt>Att	p.L108I	SLITRK3_uc003fek.3_Missense_Mutation_p.L108I|SLITRK3_uc021xgy.1_Missense_Mutation_p.L108I	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	108						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TTGTTCCCAAGATTAATAGAC	0.343000										HNSCC(40;0.11)			23	10					0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160517488	160517488	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr6:160517488G>C	uc003qta.3	+	44	6821	c.6673G>C	c.(6673-6675)Gtg>Ctg	p.V2225L		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	2225					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	p.V2225M(2)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TCTCGATGTCGTGTTTGCCTC	0.512000													19	196					0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65784607	65784607	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr11:65784607G>T	uc001ogt.3	-	10	2378	c.2240C>A	c.(2239-2241)gCa>gAa	p.A747E		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	Homo sapiens cation channel, sperm associated 1 (CATSPER1), mRNA.	747					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CTCCACGCTTGCCACCAGCTG	0.642000													13	16					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109696795	109696795	+	Silent	SNP	A	A	G			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr12:109696795A>G	uc001tob.3	+	46	6497	c.6378A>G	c.(6376-6378)ggA>ggG	p.G2126G	ACACB_uc001toc.3_Silent_p.G2126G|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Silent_p.G792G	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	2126	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding	p.G2126E(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	AGCAGGCAGGACAGGTGTGGT	0.577000											OREG0007682	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=ACACB|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	44	188					0	0	1	0	0
MYRIP	25924	broad.mit.edu	37	3	40231702	40231702	+	Silent	SNP	A	A	G			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr3:40231702A>G	uc003cka.3	+	9	1548	c.1413A>G	c.(1411-1413)agA>agG	p.R471R	MYRIP_uc010hhu.3_Non-coding_Transcript|MYRIP_uc010hhv.3_Silent_p.R471R|MYRIP_uc010hhw.3_Silent_p.R382R|MYRIP_uc011ayz.2_Silent_p.R284R|FLJ33065_uc003ckb.3_Intron	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), mRNA.	471	Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		ACCAGGCCAGACTGTCCTGGT	0.622000													32	60					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68414262	68414262	+	RNA	SNP	A	A	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr9:68414262A>T	uc004aex.3	+	0		c.817A>T								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		cagtggcctcaaagaactcaa	0.478000													3	29					0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142478853	142478853	+	Missense_Mutation	SNP	T	T	C	rs141495203	by1000genomes	TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr7:142478853T>C	uc011ksq.2	+	0	97	c.14T>C	c.(13-15)cTg>cCg	p.L5P	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|PRSS3P2_uc011ksr.1_5'Flank					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		AATCCACTCCTGATCCTTGCC	0.572000													4	29					0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22363519	22363519	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr19:22363519C>G	uc002nqs.1	-	2	1318	c.1000G>C	c.(1000-1002)Gag>Cag	p.E334Q		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	334					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G333V(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TAGGGTTTCTCTCCAGCATGA	0.408000													32	35					0	0	1	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133664065	133664065	+	Silent	SNP	G	G	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr3:133664065G>T	uc003eqa.4	-	9	1609	c.1335C>A	c.(1333-1335)cgC>cgA	p.R445R	SLCO2A1_uc011blv.2_Silent_p.R264R	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA.	445	Kazal-like.				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						AGCAGTCCCTGCGGCAGGCAG	0.522000													56	305					0	0	1	0	0
MXD1	4084	broad.mit.edu	37	2	70165331	70165331	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr2:70165331G>C	uc002sfy.3	+	5	871	c.581G>C	c.(580-582)aGc>aCc	p.S194T	MXD1_uc010yqp.2_Missense_Mutation_p.S193T|MXD1_uc010yqs.2_Missense_Mutation_p.S184T|MXD1_uc010yqq.2_Missense_Mutation_p.S131T|MXD1_uc010yqr.2_Non-coding_Transcript|MXD1_uc021vix.1_Non-coding_Transcript	NM_002357	NP_002348	Q05195	MAD1_HUMAN	Homo sapiens MAX dimerization protein 1 (MXD1), transcript variant 1, mRNA.	194					cell proliferation|multicellular organismal development	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						AGCATGCAGAGCCTCGGCAGT	0.562000													33	77					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578502	7578502	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr17:7578502A>C	uc002gim.2	-	4	622	c.428T>G	c.(427-429)gTg>gGg	p.V143G	TP53_uc002gig.1_Missense_Mutation_p.V143G|TP53_uc002gih.3_Missense_Mutation_p.V143G|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.V11G|TP53_uc010cnf.1_Missense_Mutation_p.V11G|TP53_uc002gii.1_Missense_Mutation_p.V11G|TP53_uc010cni.1_Missense_Mutation_p.V143G|TP53_uc010cnh.1_Missense_Mutation_p.V143G|TP53_uc002gij.2_Missense_Mutation_p.V143G|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.V50G|TP53_uc002gio.2_Missense_Mutation_p.V11G|TP53_uc010vug.2_Missense_Mutation_p.V104G	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	143	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation; strong DNA binding ability at 32.5 degrees Celsius; strong reduction of transcriptional activity at 37.5 degrees Celsius).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V143A(33)|p.V143M(17)|p.V143E(10)|p.P142L(8)|p.0?(8)|p.V143L(4)|p.P142H(3)|p.P142P(3)|p.L137_W146del10(2)|p.P142_Q144delPVQ(2)|p.V11A(2)|p.P142F(2)|p.P142A(2)|p.V50A(2)|p.A138_V143delAKTCPV(2)|p.P142T(2)|p.P142S(2)|p.V143V(2)|p.V143fs*27(2)|p.A138_P142delAKTCP(2)|p.V143G(2)|p.P142fs*28(2)|p.V143_S149del(2)|p.V143fs*29(1)|p.K139fs*4(1)|p.C141_P142insXX(1)|p.C141fs*5(1)|p.P142del(1)|p.P142fs*7(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)		CCACAGCTGCACAGGGCAGGT	0.587000		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)			36	1					0	0	1	0	0
USP51	158880	broad.mit.edu	37	X	55515333	55515333	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chrX:55515333C>T	uc022bxu.1	-	0	40	c.40G>A	c.(40-42)Ggg>Agg	p.G14R	USP51_uc004dun.2_Missense_Mutation_p.G14R	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN	Homo sapiens ubiquitin specific peptidase 51 (USP51), mRNA.	14					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						CAGCGGACCCCAGAGCCGGAG	0.627000													8	16					0	0	1	0	0
LOC283788	283788	broad.mit.edu	37	GL000219.1	83245	83245	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chrGL000219.1:83245T>C	uc022brb.1	-	3	422	c.109A>G	c.(109-111)Agt>Ggt	p.S37G	LOC283788_uc011mfq.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC283788), non-coding RNA.																		GCTGTTTTACTTTTTGCTTCT	0.363000													3	47					0	0	1	0	0
USP10	9100	broad.mit.edu	37	16	84792334	84792334	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr16:84792334A>G	uc010voe.2	+	5	1468	c.1217A>G	c.(1216-1218)aAt>aGt	p.N406S	USP10_uc002fii.3_Missense_Mutation_p.N402S|USP10_uc010vof.2_5'UTR|USP10_uc002fij.3_Intron	NM_005153	NP_005144	Q14694	UBP10_HUMAN	Homo sapiens ubiquitin specific peptidase 10 (USP10), mRNA.	402					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						TTGCTGGAGAATGTAACCCTA	0.438000													24	52					0	0	1	0	0
OVOS2	0	broad.mit.edu	37	12	31353357	31353357	+	Splice_Site	SNP	C	C	A			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr12:31353357C>A	uc010sjy.1	-	3	373	c.373_splice	c.e3+1	p.D125_splice						RecName: Full=Ovostatin homolog 2; Flags: Precursor;													all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GTACACTCACCTTTCTGTCCA	0.393000													4	12					0	0	1	0	0
FZD2	2535	broad.mit.edu	37	17	42636744	42636744	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr17:42636744C>T	uc002igx.2	+	0	1933	c.1688C>T	c.(1687-1689)aCc>aTc	p.T563I		NM_001466	NP_001457	Q14332	FZD2_HUMAN	Homo sapiens frizzled family receptor 2 (FZD2), mRNA.	563					G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CACGGTGAGACCACCGTGTGA	0.597000													19	12					0	0	1	0	0
EHMT2	10919	broad.mit.edu	37	6	31848029	31848029	+	Silent	SNP	G	G	A			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr6:31848029G>A	uc003nxz.1	-	27	3475	c.3465C>T	c.(3463-3465)ggC>ggT	p.G1155G	EHMT2_uc003nxx.1_Silent_p.G353G|EHMT2_uc003nxy.1_Silent_p.G953G|EHMT2_uc011don.1_Silent_p.G1178G|EHMT2_uc003nya.1_Silent_p.G1121G|SLC44A4_uc011dol.2_5'Flank|SLC44A4_uc010jti.3_5'Flank|SLC44A4_uc011dom.2_5'Flank	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 2 (EHMT2), transcript variant NG36/G9a, mRNA.	1155	Interaction with histone H3 (By similarity).|SET.				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						AGAAGCGGTCGCCATAGTCAA	0.567000													4	37					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6700933	6700933	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr12:6700933C>T	uc001qpo.3	-	20	3313	c.3149G>A	c.(3148-3150)gGg>gAg	p.G1050E	CHD4_uc001qpn.3_Missense_Mutation_p.G1043E|CHD4_uc001qpp.3_Missense_Mutation_p.G1047E	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	1050					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CAATAATTTCCCAGATGCTCT	0.443000													65	3					0	0	1	0	0
BCL2L13	23786	broad.mit.edu	37	22	18185097	18185097	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr22:18185097G>C	uc002zmw.3	+	5	763	c.545G>C	c.(544-546)gGc>gCc	p.G182A	BCL2L13_uc002zmu.3_Missense_Mutation_p.G182A|BCL2L13_uc002zmx.3_Missense_Mutation_p.G20A|BCL2L13_uc002zmy.3_Intron|BCL2L13_uc010gqy.3_Missense_Mutation_p.G20A|BCL2L13_uc011agk.2_Missense_Mutation_p.G58A|BCL2L13_uc010gqz.3_Intron|BCL2L13_uc002zmz.3_Missense_Mutation_p.G20A	NM_015367	NP_056182	Q9BXK5	B2L13_HUMAN	Homo sapiens BCL2-like 13 (apoptosis facilitator) (BCL2L13), nuclear gene encoding mitochondrial protein, mRNA.	182					induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		CTGCAGTTTGGCGTGACATAC	0.403000													37	48					0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64111265	64111265	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr11:64111265C>T	uc001nzy.3	+	12	1383	c.1334C>T	c.(1333-1335)gCg>gTg	p.A445V	CCDC88B_uc009ypo.2_Missense_Mutation_p.A442V|CCDC88B_uc001nzz.1_Missense_Mutation_p.A94V	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	Homo sapiens coiled-coil domain containing 88B (CCDC88B), mRNA.	445					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTAGCAGGAGCGGCCCCCTCG	0.637000													6	10					0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241713633	241713633	+	Missense_Mutation	SNP	T	T	A			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr2:241713633T>A	uc010fzk.3	-	11	1251	c.1004A>T	c.(1003-1005)gAc>gTc	p.D335V	KIF1A_uc002vzy.3_Missense_Mutation_p.D335V|KIF1A_uc002vzz.2_Missense_Mutation_p.D335V	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	335	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GTAGTTGATGTCTGCAGGACT	0.587000													27	8					0	0	1	0	0
SLC25A39	51629	broad.mit.edu	37	17	42398463	42398463	+	Silent	SNP	G	G	A			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr17:42398463G>A	uc002ign.2	-	7	808	c.654C>T	c.(652-654)ggC>ggT	p.G218G	SLC25A39_uc002igm.2_Silent_p.G210G|SLC25A39_uc010wiw.1_Silent_p.G195G|SLC25A39_uc010wix.1_3'UTR|SLC25A39_uc010wiy.1_3'UTR	NM_001143780	NP_001137252	Q9BZJ4	S2539_HUMAN	Homo sapiens solute carrier family 25, member 39 (SLC25A39), transcript variant 1, mRNA.	218					heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGGGGCCCCAGCCCAGCCACA	0.637000													10	36					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141108430	141108430	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr2:141108430G>A	uc002tvj.1	-	76	12800	c.11828C>T	c.(11827-11829)cCa>cTa	p.P3943L		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3943					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AATTCCGCCTGGATTAAACTG	0.328000										TSP Lung(27;0.18)			31	16					0	0	1	0	0
LPPR4	9890	broad.mit.edu	37	1	99764627	99764627	+	Missense_Mutation	SNP	T	T	A			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr1:99764627T>A	uc001dse.3	+	3	733	c.575T>A	c.(574-576)aTt>aAt	p.I192N	LPPR4_uc010oue.2_Missense_Mutation_p.I192N	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 4 (LPPR4), transcript variant 1, mRNA.	192							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)		ACAGCTCTCATTACAGATATC	0.368000													11	16					0	0	1	0	0
KIAA0895L	653319	broad.mit.edu	37	16	67214278	67214278	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr16:67214278C>T	uc002ert.3	-	1	1071	c.236G>A	c.(235-237)cGc>cAc	p.R79H	KIAA0895L_uc002err.3_5'Flank|KIAA0895L_uc002ers.3_5'Flank|KIAA0895L_uc002eru.3_Missense_Mutation_p.R79H|EXOC3L1_uc002erv.1_Non-coding_Transcript	NM_001040715	NP_001035805	Q68EN5	K895L_HUMAN	Homo sapiens KIAA0895-like (KIAA0895L), mRNA.	79										breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						GCTCTCACTGCGACGCATGTG	0.692000													7	6					0	0	1	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32725559	32725559	+	Missense_Mutation	SNP	C	C	T	rs113761247	byFrequency	TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr6:32725559C>T	uc003obz.2	-	3	831	c.748G>A	c.(748-750)Ggt>Agt	p.G250S	HLA-DQB2_uc003oby.4_Intron	NM_001198858	NP_001185787	Q5SR06	Q5SR06_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ beta 2 (HLA-DQB2), mRNA.	216					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	MHC class II protein complex|integral to membrane				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CCTTTCTGACCCCTGTGACGG	0.552000													6	39					0	0	1	0	0
TMEM144	55314	broad.mit.edu	37	4	159140504	159140504	+	Silent	SNP	G	G	A			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr4:159140504G>A	uc003ipx.3	+	5	895	c.375G>A	c.(373-375)ccG>ccA	p.P125P	TMEM144_uc010iqi.3_Non-coding_Transcript	NM_018342	NP_060812	Q7Z5S9	TM144_HUMAN	Homo sapiens transmembrane protein 144 (TMEM144), mRNA.	125						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		TATCAAATCCGCTGCTAAATT	0.363000													31	74					0	0	1	0	0
F2RL1	2150	broad.mit.edu	37	5	76115089	76115089	+	Splice_Site	SNP	G	G	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr5:76115089G>T	uc003keo.3	+	1	257	c.82_splice	c.e1+1	p.G28_splice		NM_005242	NP_005233	P55085	PAR2_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 1 (F2RL1), mRNA.	28					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		CACCATCCAAGGTGAGAAACC	0.672000													4	7					0	0	1	0	0
HIST1H2BN	8341	broad.mit.edu	37	6	27806657	27806657	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr6:27806657G>A	uc003nju.1	+	0	279	c.218G>A	c.(217-219)cGc>cAc	p.R73H	HIST1H2AK_uc003njs.3_5'Flank|HIST1H2BN_uc003njt.1_Non-coding_Transcript|HIST1H2BN_uc003njv.3_Missense_Mutation_p.R73H	NM_003520	NP_003511	Q99877	H2B1N_HUMAN	Homo sapiens histone cluster 1, H2bn (HIST1H2BN), mRNA.	73					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						ATCTTCGAGCGCATCGCCGGC	0.617000													5	351					0	0	1	0	0
SETDB1	9869	broad.mit.edu	37	1	150921998	150921998	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr1:150921998A>G	uc001evu.2	+	11	1767	c.1577A>G	c.(1576-1578)tAt>tGt	p.Y526C	SETDB1_uc009wmf.2_Missense_Mutation_p.Y527C|SETDB1_uc001evv.2_Missense_Mutation_p.Y526C|SETDB1_uc009wmg.2_Missense_Mutation_p.Y526C	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	Homo sapiens SET domain, bifurcated 1 (SETDB1), transcript variant 1, mRNA.	526					regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|chromosome|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			AACCAGACATATAGGTGAGAA	0.502000													27	89					0	0	1	0	0
WASH3P	374666	broad.mit.edu	37	15	102515250	102515250	+	Silent	SNP	C	C	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr15:102515250C>T	uc002cdi.3	+	8	1894	c.474C>T	c.(472-474)tcC>tcT	p.S158S	WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.											central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TTGACCCCTCCGGTGGCCGGG	0.642000													5	10					0	0	1	0	0
GRIA3	2892	broad.mit.edu	37	X	122387246	122387246	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chrX:122387246C>A	uc004etq.4	+	2	653	c.361C>A	c.(361-363)Cac>Aac	p.H121N	GRIA3_uc004etr.4_Missense_Mutation_p.H121N|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Missense_Mutation_p.H105N	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	121					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	p.H121N(3)		breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	TGGGGCCCTGCACACATCCTT	0.537000													27	89					0	0	1	0	0
C1orf74	148304	broad.mit.edu	37	1	209956665	209956665	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr1:209956665C>G	uc001hhp.1	-	1	558	c.315G>C	c.(313-315)gaG>gaC	p.E105D	C1orf74_uc021pio.1_Missense_Mutation_p.E105D	NM_152485	NP_689698	Q96LT6	CA074_HUMAN	Homo sapiens chromosome 1 open reading frame 74 (C1orf74), mRNA.	105										endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		GCAGCACCTGCTCCAAGTGCT	0.532000													16	45					0	0	1	0	0
WASH7P	653635	broad.mit.edu	37	1	14976	14976	+	RNA	SNP	G	G	A			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr1:14976G>A	uc009vis.3	-	2		c.369C>T			WASH7P_uc009vit.3_Non-coding_Transcript|WASH7P_uc009viu.3_Non-coding_Transcript|WASH7P_uc001aae.4_Non-coding_Transcript|WASH7P_uc001aah.4_Non-coding_Transcript|WASH7P_uc009vir.3_Non-coding_Transcript|WASH7P_uc009viq.3_Intron|WASH7P_uc001aac.4_Non-coding_Transcript|WASH7P_uc009viv.2_Non-coding_Transcript|WASH7P_uc009viw.2_Non-coding_Transcript					Homo sapiens WAS protein family homolog 7 pseudogene (WASH7P), non-coding RNA.																		CTACCCTTGCGCCTCATGACC	0.582000													4	11					0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61951483	61951483	+	Silent	SNP	C	C	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr20:61951483C>T	uc011aau.2	+	23	3109	c.3009C>T	c.(3007-3009)ccC>ccT	p.P1003P	COL20A1_uc011aav.2_Silent_p.P824P	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	1003	TSP N-terminal.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GCAGCCCACCCGCTGCGGGCT	0.716000													10	4					0	0	1	0	0
DIRAS2	54769	broad.mit.edu	37	9	93375839	93375839	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr9:93375839G>A	uc022bjs.1	-	0	271	c.271C>T	c.(271-273)Cga>Tga	p.R91*	DIRAS2_uc004aqx.1_Nonsense_Mutation_p.R91*	NM_017594	NP_060064	Q96HU8	DIRA2_HUMAN	Homo sapiens DIRAS family, GTP-binding RAS-like 2 (DIRAS2), mRNA.	91					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						AAGGACTGTCGGCTGGTAATG	0.582000													86	4					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76490708	76490708	+	Silent	SNP	G	G	A			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr17:76490708G>A	uc010dhp.2	-	39	6362	c.6237C>T	c.(6235-6237)gaC>gaT	p.D2079D	AK127460_uc002jvt.1_5'Flank	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCCGAGGCACGTCCAGAGCCG	0.587000													30	130					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	49033926	49033926	+	Missense_Mutation	SNP	T	T	G			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr13:49033926T>G	uc001vcb.3	+	19	2229	c.2063T>G	c.(2062-2064)cTg>cGg	p.L688R		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	688	Domain B.|Pocket; binds T and E1A.				G1 phase of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|sister chromatid biorientation	PML body|Rb-E2F complex|SWI/SNF complex|chromatin	DNA binding|androgen receptor binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(11)|p.L688P(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAGCACACCCTGCAGAATGAG	0.443000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			34	1					0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56386693	56386693	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr17:56386693C>T	uc002ivx.4	-	21	4811	c.3940G>A	c.(3940-3942)Gag>Aag	p.E1314K	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Missense_Mutation_p.E1254K|BZRAP1_uc010wnt.2_Missense_Mutation_p.E1314K	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1314						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGGATCTGCTCCAAGATCTCC	0.577000													42	47					0	0	1	0	0
PDZD3	79849	broad.mit.edu	37	11	119057301	119057301	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr11:119057301G>A	uc001pwb.3	+	1	954	c.430G>A	c.(430-432)Gtg>Atg	p.V144M	PDZD3_uc001pvz.3_Missense_Mutation_p.V78M|PDZD3_uc010rzd.2_Missense_Mutation_p.V65M|PDZD3_uc001pvy.3_Missense_Mutation_p.V78M|PDZD3_uc001pwa.3_5'UTR			Q86UT5	NHRF4_HUMAN	Homo sapiens PDZ domain containing 3 (PDZD3), transcript variant 3, non-coding RNA.	144	PDZ 1.				cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		GGTGTGCAGGGTGGACCCAGG	0.597000													45	1					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113585824	113585824	+	Silent	SNP	G	G	A			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr8:113585824G>A	uc003ynu.3	-	23	4107	c.3948C>T	c.(3946-3948)cgC>cgT	p.R1316R	CSMD3_uc003yns.3_Silent_p.R588R|CSMD3_uc003ynt.3_Silent_p.R1276R|CSMD3_uc011lhx.2_Silent_p.R1212R	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1316	CUB 7.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTGTCAGTCCGCGCATAGATG	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			26	143					0	0	1	0	0
USP26	83844	broad.mit.edu	37	X	132161820	132161820	+	Silent	SNP	A	A	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chrX:132161820A>T	uc011mvf.2	-	0	481	c.429T>A	c.(427-429)tcT>tcA	p.S143S	USP26_uc010nrm.1_Silent_p.S143S	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	143					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CTATCTCAAAAGATTTGCTAC	0.408000													12	28					0	0	1	0	0
SCD	6319	broad.mit.edu	37	10	102108089	102108089	+	Missense_Mutation	SNP	A	A	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr10:102108089A>T	uc001kqy.3	+	1	786	c.296A>T	c.(295-297)tAc>tTc	p.Y99F		NM_005063	NP_005054	O00767	ACOD_HUMAN	Homo sapiens stearoyl-CoA desaturase (delta-9-desaturase) (SCD), mRNA.	99					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		TGCAAGTTCTACACCTGGCTT	0.493000													96	68					0	0	1	0	0
OR2A12	346525	broad.mit.edu	37	7	143792722	143792722	+	Silent	SNP	C	C	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr7:143792722C>T	uc011kty.2	+	0	522	c.522C>T	c.(520-522)aaC>aaT	p.N174N		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					AAAAGATCAACCACTTTTTCT	0.463000													33	72					0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106552814	106552814	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr6:106552814C>A	uc003prd.2	+	4	1013	c.779C>A	c.(778-780)cCc>cAc	p.P260H	PRDM1_uc003pre.3_Missense_Mutation_p.P126H	NM_001198	NP_001189	O75626	PRDM1_HUMAN	Homo sapiens PR domain containing 1, with ZNF domain (PRDM1), transcript variant 1, mRNA.	260					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R260L(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		GACTCCAACCCCTCCAAAGGA	0.468000			"""D, N, Mis, F, S"""		DLBCL								201	223					0	0	1	0	0
LMOD2	442721	broad.mit.edu	37	7	123302950	123302950	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr7:123302950G>T	uc003vky.2	+	1	1467	c.1310G>T	c.(1309-1311)aGg>aTg	p.R437M		NM_207163	NP_997046	Q6P5Q4	LMOD2_HUMAN	Homo sapiens leiomodin 2 (cardiac) (LMOD2), mRNA.	437	Pro-rich.					cytoskeleton	actin binding|tropomyosin binding										tcttcccaaaggctgccacca	0.572000													7	2					0	0	1	0	0
UACA	55075	broad.mit.edu	37	15	70959158	70959158	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr15:70959158G>C	uc002asr.3	-	15	3969	c.3865C>G	c.(3865-3867)Cag>Gag	p.Q1289E	UACA_uc010uke.2_Missense_Mutation_p.Q1180E|UACA_uc002asq.3_Missense_Mutation_p.Q1276E|UACA_uc010bin.1_Missense_Mutation_p.Q1264E	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	Homo sapiens uveal autoantigen with coiled-coil domains and ankyrin repeats (UACA), transcript variant 1, mRNA.	1289						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						CGTTCCTTCTGATCCTTAATT	0.348000													7	50					0	0	1	0	0
FFAR2	2867	broad.mit.edu	37	19	35941555	35941555	+	Silent	SNP	C	C	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr19:35941555C>T	uc002nzg.2	+	1	1019	c.939C>T	c.(937-939)gaC>gaT	p.D313D	FFAR2_uc010eea.3_Silent_p.D313D	NM_005306	NP_005297	O15552	FFAR2_HUMAN	Homo sapiens free fatty acid receptor 2 (FFAR2), mRNA.	313						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CAAATGAGGACAGGGGTGTGG	0.587000													16	59					0	0	1	0	0
ALG12	79087	broad.mit.edu	37	22	50297568	50297568	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr22:50297568A>C	uc003biy.3	-	9	1659	c.1385T>G	c.(1384-1386)cTg>cGg	p.L462R		NM_024105	NP_077010	Q9BV10	ALG12_HUMAN	Homo sapiens asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae) (ALG12), mRNA.	462					GPI anchor biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		GGTCAGGTTCAGACTCACACC	0.657000													11	48					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103182702	103182702	+	Silent	SNP	T	T	C			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr11:103182702T>C	uc001phn.1	+	79	11754	c.11610T>C	c.(11608-11610)gcT>gcC	p.A3870A	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Silent_p.A3863A	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	3863	AAA 6 (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GAGCTCATGCTCTCTTCAGTC	0.363000													45	4					0	0	1	0	0
IL6ST	3572	broad.mit.edu	37	5	55265552	55265552	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr5:55265552C>T	uc003jqq.3	-	3	509	c.196G>A	c.(196-198)Gtc>Atc	p.V66I	IL6ST_uc003jqp.3_Intron|IL6ST_uc010iwd.3_Intron|IL6ST_uc011cqk.2_5'UTR|IL6ST_uc003jqr.3_Missense_Mutation_p.V66I|IL6ST_uc010iwb.3_Missense_Mutation_p.V66I|IL6ST_uc010iwf.1_Intron	NM_002184	NP_002175	P40189	IL6RB_HUMAN	Homo sapiens interleukin 6 signal transducer (gp130, oncostatin M receptor) (IL6ST), transcript variant 1, mRNA.	66	Ig-like C2-type.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of T cell proliferation|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				GTTTTCCAGACAATGTAATTA	0.318000			O		hepatocellular ca								13	35					0	0	1	0	0
GPR137	56834	broad.mit.edu	37	11	64056826	64056826	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr11:64056826C>T	uc010rni.2	+	8	1445	c.1417C>T	c.(1417-1419)Ccg>Tcg	p.P473S	GPR137_uc010rnj.2_3'UTR|GPR137_uc001nzf.3_3'UTR|GPR137_uc001nzi.3_3'UTR|GPR137_uc021qkt.1_Missense_Mutation_p.P415S|KCNK4_uc009ypl.1_5'Flank|KCNK4_uc001nzj.1_5'Flank|KCNK4_uc001nzk.1_5'Flank|KCNK4_uc010rnk.1_5'Flank|KCNK4_uc001nzl.1_5'Flank|KCNK4_uc001nzm.4_5'Flank|KCNK4_uc001nzn.1_5'Flank	NM_001170726	NP_001164197	Q96N19	G137A_HUMAN	Homo sapiens G protein-coupled receptor 137 (GPR137), transcript variant 4, mRNA.	415						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						TGAGCTTGTGCCGTCCCCCTA	0.647000													5	98					0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76555943	76555943	+	Silent	SNP	A	A	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr16:76555943A>T	uc002fex.1	+	15	2692	c.2553A>T	c.(2551-2553)acA>acT	p.T851T	CNTNAP4_uc002feu.1_Silent_p.T847T|CNTNAP4_uc002fev.1_Silent_p.T712T|CNTNAP4_uc010chb.1_Silent_p.T775T	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	848	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CAGCTCCGACAGTAGTGACTT	0.453000													47	103					0	0	1	0	0
STX7	8417	broad.mit.edu	37	6	132792624	132792624	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr6:132792624A>C	uc003qdg.2	-	4	615	c.365T>G	c.(364-366)gTa>gGa	p.V122G	STX7_uc011ecg.1_Non-coding_Transcript|STX7_uc011ech.1_Intron	NM_003569	NP_003560	O15400	STX7_HUMAN	Homo sapiens syntaxin 7 (STX7), mRNA.	122					intracellular protein transport|post-Golgi vesicle-mediated transport	early endosome membrane|integral to membrane	SNAP receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5)	19	Breast(56;0.0615)			OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)		ACTGGCTCTTACTCGAGCAAC	0.428000													38	55					0	0	1	0	0
RD3	343035	broad.mit.edu	37	1	211652494	211652494	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr1:211652494G>A	uc001him.2	-	2	1636	c.472C>T	c.(472-474)Cgc>Tgc	p.R158C	RD3_uc001hin.2_Missense_Mutation_p.R158C|RD3_uc009xda.2_Non-coding_Transcript	NM_183059	NP_898882	Q7Z3Z2	RD3_HUMAN	Homo sapiens retinal degeneration 3 (RD3), transcript variant 1, mRNA.	158					response to stimulus|visual perception			p.A157E(1)		central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		GGCGAGATGCGCGCGCGGGTC	0.692000													9	31					0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49415614	49415614	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr12:49415614G>C	uc001rta.4	-	53	16563	c.16563C>G	c.(16561-16563)caC>caG	p.H5521Q		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	5521	Post-SET.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						AGGGGATCTTGTGCTGATCGT	0.512000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)			13	42					0	0	1	0	0
DDX12P	440081	broad.mit.edu	37	12	9580293	9580293	+	RNA	SNP	A	A	G	rs139954536	by1000genomes	TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr12:9580293A>G	uc021qut.1	-	4		c.329T>C			DDX12P_uc001qvx.4_Non-coding_Transcript					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene (DDX12P), non-coding RNA.									p.M473T(1)									CTTCAGCTCCATCCCTGAGAA	0.502000													3	23					0	0	1	0	0
ATG9B	285973	broad.mit.edu	37	7	150715385	150715385	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr7:150715385C>T	uc011kvc.2	-	6	1944	c.1868G>A	c.(1867-1869)cGa>cAa	p.R623Q	ATG9B_uc003wig.4_Non-coding_Transcript	NM_173681	NP_775952	Q674R7	ATG9B_HUMAN	Homo sapiens ATG9 autophagy related 9 homolog B (S. cerevisiae) (ATG9B), mRNA.	623					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTCACCGCTCGGTACTGCAG	0.711000											OREG0018444	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	27					0	0	1	0	0
TREML2	79865	broad.mit.edu	37	6	41162265	41162265	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr6:41162265A>C	uc010jxm.1	-	2	862	c.683T>G	c.(682-684)aTc>aGc	p.I228S		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.	228					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTTAGTGGAGATGGATTCTGG	0.622000													21	18					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164704992	164704992	+	Missense_Mutation	SNP	T	T	G			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr3:164704992T>G	uc003fei.3	-	44	5194	c.5131A>C	c.(5131-5133)Att>Ctt	p.I1711L		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1711	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GCAGCAACAATGAGCTTCATG	0.343000										HNSCC(35;0.089)			12	29					0	0	1	0	0
DDX12P	440081	broad.mit.edu	37	12	9580280	9580280	+	RNA	SNP	A	A	G	rs146037854	by1000genomes	TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr12:9580280A>G	uc021qut.1	-	4		c.342T>C			DDX12P_uc001qvx.4_Non-coding_Transcript					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene (DDX12P), non-coding RNA.																		AGTCGTTGATAGTCTTCAGCT	0.493000													3	24					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113358408	113358408	+	Silent	SNP	A	A	C			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr8:113358408A>C	uc003ynu.3	-	40	6519	c.6360T>G	c.(6358-6360)ggT>ggG	p.G2120G	CSMD3_uc003yns.3_Silent_p.G1322G|CSMD3_uc003ynt.3_Silent_p.G2080G|CSMD3_uc011lhx.2_Silent_p.G2016G	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2120	CUB 12.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGAGGATCACACCACTGAAGT	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			71	48					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139400313	139400313	+	Nonsense_Mutation	SNP	A	A	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr9:139400313A>T	uc004chz.3	-	24	4035	c.4035T>A	c.(4033-4035)tgT>tgA	p.C1345*	NOTCH1_uc004cia.1_Nonsense_Mutation_p.C575*	NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	1345	EGF-like 34.				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGTCATTCTCACACGTGGCGC	0.726000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			9	2					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52431061	52431061	+	Splice_Site	SNP	G	G	A			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr3:52431061G>A	uc011bef.2	+	73	12048	c.11787_splice	c.e73+1	p.H3929_splice	DNAH1_uc003ddv.3_Splice_Site_p.H787_splice	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	3994					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGACCTCCACGTGAGTCCAGC	0.632000													6	10					0	0	1	0	0
ANXA6	309	broad.mit.edu	37	5	150512081	150512081	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr5:150512081C>G	uc003ltl.2	-	9	920	c.692G>C	c.(691-693)cGa>cCa	p.R231P	ANXA6_uc011dcp.2_Missense_Mutation_p.R199P|ANXA6_uc003lto.2_Intron	NM_001155	NP_001180473	P08133	ANXA6_HUMAN	Homo sapiens annexin A6 (ANXA6), transcript variant 1, mRNA.	231						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding	p.R231Q(1)		endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGCTCCCCTCGGATGCTGGC	0.552000													9	19					0	0	1	0	0
MX2	4600	broad.mit.edu	37	21	42775253	42775253	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr21:42775253C>G	uc002yzf.1	+	11	1737	c.1633C>G	c.(1633-1635)Ctt>Gtt	p.L545V	MX2_uc002yzg.1_Missense_Mutation_p.L268V|MX2_uc010gop.1_Missense_Mutation_p.L27V	NM_002463	NP_002454	P20592	MX2_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 2 (mouse) (MX2), mRNA.	545					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				ATTTTTCAACCTTAACCAAAC	0.393000													33	28					0	0	1	0	0
SARM1	23098	broad.mit.edu	37	17	26715423	26715423	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr17:26715423G>C	uc010crl.1	+	8	1849	c.1782G>C	c.(1780-1782)gaG>gaC	p.E594D	SARM1_uc010waj.1_Non-coding_Transcript|SARM1_uc002hbe.1_Missense_Mutation_p.E140D	NM_015077	NP_055892	Q6SZW1	SARM1_HUMAN	Homo sapiens sterile alpha and TIR motif containing 1 (SARM1), mRNA.	596	TIR.				innate immune response	cytoplasm|intrinsic to membrane	binding|transmembrane receptor activity			cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		TTGATGTGGAGAAGCTGGAAG	0.547000													30	43					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68414523	68414523	+	RNA	SNP	A	A	G	rs4352957		TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr9:68414523A>G	uc004aex.3	+	0		c.1078A>G								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		tgctctagaaatggaacatca	0.388000													3	21					0	0	1	0	0
ZZZ3	26009	broad.mit.edu	37	1	78044547	78044547	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr1:78044547C>A	uc001dhq.3	-	10	2566	c.2090G>T	c.(2089-2091)aGc>aTc	p.S697I	ZZZ3_uc001dhr.3_Missense_Mutation_p.S203I|ZZZ3_uc001dhp.3_Missense_Mutation_p.S696I	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN	Homo sapiens zinc finger, ZZ-type containing 3 (ZZZ3), mRNA.	697	HTH myb-type.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						CTGTACTCGGCTGGCAACCTA	0.343000													5	10					0	0	1	0	0
C8orf76	84933	broad.mit.edu	37	8	124250155	124250155	+	Silent	SNP	G	G	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr8:124250155G>T	uc003yqc.2	-	2	292	c.240C>A	c.(238-240)atC>atA	p.I80I	C8orf76_uc003yqd.3_Silent_p.I48I	NM_032847	NP_116236	Q96K31	CH076_HUMAN	Homo sapiens chromosome 8 open reading frame 76 (C8orf76), mRNA.	80							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)			ATTTTTCAGAGATACTGGAAT	0.423000													34	45					0	0	1	0	0
LOC100499466	100499466	broad.mit.edu	37	17	66126329	66126329	+	RNA	SNP	G	G	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr17:66126329G>T	uc002jgq.3	+	5		c.5452G>T								Homo sapiens uncharacterized LOC100499466 (LOC100499466), non-coding RNA.																		TTTATCACCAGGCAATTTGGA	0.299000													4	103					0	0	1	0	0
C1orf43	25912	broad.mit.edu	37	1	154179938	154179939	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr1:154179938_154179939delAC	uc001fei.2	-	6	1142_1143	c.752_753delGT	c.(751-753)agtfs	p.S251fs	C1orf189_uc001fee.1_5'Flank|C1orf43_uc001feg.2_Frame_Shift_Del_p.S217fs|C1orf43_uc001feh.2_Frame_Shift_Del_p.S199fs|C1orf43_uc009wos.1_3'UTR	NM_001098616	NP_001092086	Q9BWL3	CA043_HUMAN	Homo sapiens chromosome 1 open reading frame 43 (C1orf43), transcript variant 3, mRNA.	251						integral to membrane	coenzyme binding|oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					GTCACAGAGTACTCTCCAATGT	0.510													9	149	---	---	---	---					
FMNL2	114793	broad.mit.edu	37	2	153415331	153415331	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr2:153415331delC	uc002tye.3	+	4	804	c.437delC	c.(436-438)gcgfs	p.A146fs		NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	Homo sapiens formin-like 2 (FMNL2), mRNA.	146	GBD/FH3.				actin cytoskeleton organization	cytoplasm	Rho GTPase binding|actin binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						GCACAGTACGCGGTAACGTAA	0.378													6	13	---	---	---	---					
DPP4	1803	broad.mit.edu	37	2	162865080	162865089	+	Frame_Shift_Del	DEL	TCCCACCGGG	TCCCACCGGG	-	rs138430103	by1000genomes	TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr2:162865080_162865089delTCCCACCGGG	uc002ubz.3	-	21	2531_2540	c.1970_1979delCCCGGTGGGA	c.(1969-1980)tcccggtgggagfs	p.S657fs	DPP4_uc010fpb.3_Frame_Shift_Del_p.S333fs	NM_001935	NP_001926	P27487	DPP4_HUMAN	Homo sapiens dipeptidyl-peptidase 4 (DPP4), mRNA.	657					T cell activation|T cell costimulation|cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	ACCATAGTACTCCCACCGGGATACAGGCGC	0.471													24	19	---	---	---	---					
MED12L	116931	broad.mit.edu	37	3	150877759	150877760	+	Frame_Shift_Ins	INS	-	-	TCGAGTA			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr3:150877759_150877760insTCGAGTA	uc003eyp.3	+	6	1107_1108	c.978_979insTCGAGTA	c.(976-981)aactcgfs	p.N326fs	MED12L_uc011bnz.2_Intron|MED12L_uc003eyn.3_Frame_Shift_Ins_p.N326fs|MED12L_uc003eyo.3_Frame_Shift_Ins_p.N326fs	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	326					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GACCAAACAACTCGAGTATCGG	0.609													7	206	---	---	---	---					
TNRC18	84629	broad.mit.edu	37	7	5352561	5352563	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr7:5352561_5352563delGAG	uc003soi.4	-	26	8308_8310	c.7959_7961delCTC	c.(7957-7962)tcctct>tct	p.2653_2654SS>S		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA.	2653	Ser-rich.						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)		ggacgaggaagaggaggaggagg	0.606													2	4	---	---	---	---					
CHD6	84181	broad.mit.edu	37	20	40113160	40113161	+	Frame_Shift_Del	DEL	TC	TC	-	rs146144596		TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr20:40113160_40113161delTC	uc002xka.1	-	14	2266_2267	c.2088_2089delGA	c.(2086-2091)gagacgfs	p.E696fs	CHD6_uc002xkd.2_Frame_Shift_Del_p.E674fs	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	696					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TCAATGATCGTCTCTTGTTTGG	0.455													64	71	---	---	---	---					
