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
PPP6R3	55291	broad.mit.edu	37	11	68326128	68326128	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr11:68326128C>T	ENST00000393799.2	+	8	1093	c.826C>T	c.(826-828)Ctt>Ttt	p.L276F	PPP6R3_ENST00000527403.2_Missense_Mutation_p.L276F|PPP6R3_ENST00000265637.4_Missense_Mutation_p.L276F|PPP6R3_ENST00000534534.1_Intron|PPP6R3_ENST00000393800.2_Missense_Mutation_p.L276F|PPP6R3_ENST00000529710.1_Missense_Mutation_p.L276F|PPP6R3_ENST00000524904.1_Missense_Mutation_p.L276F|PPP6R3_ENST00000524845.1_Missense_Mutation_p.L276F|PPP6R3_ENST00000393801.3_Missense_Mutation_p.L276F|PPP6R3_ENST00000265636.5_Missense_Mutation_p.L276F			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	276					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GCTGACTTTACTTGAGACACG	0.358000													20	60					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167289081	167289081	+	Missense_Mutation	SNP	T	T	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr2:167289081T>A	ENST00000409855.1	-	15	2465	c.2339A>T	c.(2338-2340)cAt>cTt	p.H780L		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	780					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						CTCATTTACATGGTCCATTGT	0.353000													41	57					0	0	1	0	0
SCLY	51540	broad.mit.edu	37	2	238999914	238999914	+	Missense_Mutation	SNP	G	G	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr2:238999914G>C	ENST00000409736.2	+	8	964	c.940G>C	c.(940-942)Gag>Cag	p.E314Q	SCLY_ENST00000422984.2_Intron|SCLY_ENST00000373332.3_Missense_Mutation_p.E232Q|SCLY_ENST00000555827.1_Intron|SCLY_ENST00000254663.6_Intron|SCLY_ENST00000429612.2_Intron			Q96I15	SCLY_HUMAN	selenocysteine lyase	0					cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		TGGTGAGCTTGAGGAGATGAG	0.478000													22	86					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													5	31					0	0	1	0	0
RP11-644F5.10	0	broad.mit.edu	37	12	56109922	56109922	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr12:56109922G>A	ENST00000550412.1	+	1	103	c.87G>A	c.(85-87)atG>atA	p.M29I	BLOC1S1_ENST00000549147.1_Missense_Mutation_p.M29I|BLOC1S1_ENST00000257899.2_Start_Codon_SNP_p.M1I|BLOC1S1_ENST00000548925.1_Missense_Mutation_p.M29I																endometrium(1)|lung(1)	2						ACGTGACCATGCTGTCCCGCC	0.657000													15	16					0	0	1	0	0
TNNT1	7138	broad.mit.edu	37	19	55653236	55653236	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr19:55653236C>T	ENST00000588981.1	-	7	385	c.181G>A	c.(181-183)Gtt>Att	p.V61I	TNNT1_ENST00000585321.2_5'UTR|TNNT1_ENST00000536926.1_Missense_Mutation_p.V50I|TNNT1_ENST00000291901.8_Missense_Mutation_p.V61I|TNNT1_ENST00000587758.1_Missense_Mutation_p.V50I|TNNT1_ENST00000592920.1_5'UTR|TNNT1_ENST00000588426.1_Intron|TNNT1_ENST00000356783.5_Missense_Mutation_p.V50I|TNNT1_ENST00000587465.2_5'UTR	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	troponin T type 1 (skeletal, slow)	61					muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		TCGAAGTCAACGCGCTCCCCT	0.602000													23	141					0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	59829994	59829994	+	Splice_Site	SNP	G	G	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr20:59829994G>T	ENST00000360469.5	+	2	257		c.e2+1			NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)						adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CTACTTCAAGGTAAGGCGGGG	0.483000													34	57					1.74807e-11	1.98644e-11	1	1	0
NELFE	7936	broad.mit.edu	37	6	31922417	31922417	+	Missense_Mutation	SNP	A	A	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr6:31922417A>T	ENST00000375429.3	-	7	883	c.657T>A	c.(655-657)gaT>gaA	p.D219E	NELFE_ENST00000444811.2_Missense_Mutation_p.D189E|NELFE_ENST00000375425.5_Missense_Mutation_p.D226E	NM_002904.5	NP_002895.3			negative elongation factor complex member E									p.D219>?(1)									cccgatcccgatccctgtccc	0.642000													15	53					0	0	1	0	0
POM121	9883	broad.mit.edu	37	7	72413896	72413896	+	Missense_Mutation	SNP	A	A	G			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr7:72413896A>G	ENST00000395270.1	+	14	3610	c.2569A>G	c.(2569-2571)Acc>Gcc	p.T857A	POM121_ENST00000257622.4_Missense_Mutation_p.T857A|POM121_ENST00000446813.1_Missense_Mutation_p.T857A|POM121_ENST00000358357.3_Missense_Mutation_p.T857A|POM121_ENST00000434423.2_Missense_Mutation_p.T1122A	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1122	Pore side (Potential).|Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		p.T857A(8)		NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				AGGCTCCAGCACCACCACCGG	0.637000													3	24					0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47284343	47284343	+	Missense_Mutation	SNP	G	G	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr1:47284343G>C	ENST00000271153.4	+	12	1429	c.1393G>C	c.(1393-1395)Gtg>Ctg	p.V465L	CYP4B1_ENST00000371923.4_Missense_Mutation_p.V466L|CYP4B1_ENST00000371919.4_Missense_Mutation_p.V451L|CYP4B1_ENST00000452782.2_Missense_Mutation_p.V303L			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	465					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					TGAGATGAAGGTGGTCACAGC	0.537000													56	43					0	0	1	0	0
OR4L1	122742	broad.mit.edu	37	14	20528715	20528715	+	Missense_Mutation	SNP	A	A	G			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr14:20528715A>G	ENST00000315683.1	+	1	512	c.512A>G	c.(511-513)cAc>cGc	p.H171R		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TTCTGTGGCCACAATGTCATA	0.398000													62	66					0	0	1	0	0
TAS2R30	259293	broad.mit.edu	37	12	11286045	11286045	+	Missense_Mutation	SNP	T	T	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr12:11286045T>C	ENST00000539585.1	-	1	1198	c.799A>G	c.(799-801)Att>Gtt	p.I267V	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_001097643.1	NP_001091112.1			taste receptor, type 2, member 30											autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						CTGAATATAATAGCTTGGCAG	0.398000													97	58					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103470202	103470202	+	Missense_Mutation	SNP	G	G	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr1:103470202G>T	ENST00000358392.2	-	19	2214	c.1897C>A	c.(1897-1899)Caa>Aaa	p.Q633K	COL11A1_ENST00000353414.4_Missense_Mutation_p.Q582K|COL11A1_ENST00000370096.3_Missense_Mutation_p.Q621K|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000512756.1_Missense_Mutation_p.Q505K	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	621	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGAGGACCTTGAGGACCTCGT	0.323000													4	13					0.184627	0.186492	1	1	0
CDKL5	6792	broad.mit.edu	37	X	18622158	18622158	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chrX:18622158G>A	ENST00000379989.3	+	13	1399	c.1114G>A	c.(1114-1116)Gct>Act	p.A372T	CDKL5_ENST00000379996.3_Missense_Mutation_p.A372T|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	372					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					TGGAAACCTTGCTGGAGCTAG	0.522000													44	168					0	0	1	0	0
NFX1	0	broad.mit.edu	37	9	33295250	33295250	+	Silent	SNP	C	C	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr9:33295250C>T	ENST00000379540.3	+	2	920	c.858C>T	c.(856-858)ctC>ctT	p.L286L	NFX1_ENST00000379521.4_Silent_p.L286L|NFX1_ENST00000318524.6_Silent_p.L286L	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	286					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		AGGATGACCTCAATGAAAGAC	0.512000													26	17					0	0	1	0	0
FBXW7	0	broad.mit.edu	37	4	153247366	153247366	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr4:153247366C>T	ENST00000281708.4	-	10	2665	c.1436G>A	c.(1435-1437)cGa>cAa	p.R479Q	FBXW7_ENST00000393956.3_Missense_Mutation_p.R303Q|FBXW7_ENST00000296555.5_Missense_Mutation_p.R361Q|FBXW7_ENST00000603841.1_Missense_Mutation_p.R479Q|FBXW7_ENST00000263981.5_Missense_Mutation_p.R399Q|FBXW7_ENST00000603548.1_Missense_Mutation_p.R479Q	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	479					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R479Q(29)|p.R479L(5)|p.R399Q(3)|p.R479P(2)|p.R240L(1)|p.R361P(1)|p.R399P(1)|p.?(1)|p.R361Q(1)|p.R399L(1)|p.R240Q(1)|p.R240P(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AGTGGCATCTCGAGAACCGCT	0.403000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								9	32					0	0	1	0	0
GABRR2	2570	broad.mit.edu	37	6	90024791	90024791	+	Missense_Mutation	SNP	C	C	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr6:90024791C>A	ENST00000402938.3	-	1	227	c.94G>T	c.(94-96)Gtg>Ttg	p.V32L	GABRR2_ENST00000602808.1_5'UTR|GABRR2_ENST00000602399.1_Missense_Mutation_p.V57L			P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	57					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		GGCATTTCCACCTGCCCTGTC	0.507000													10	215					1.58986e-06	1.70953e-06	1	1	0
LSAMP	4045	broad.mit.edu	37	3	115805175	115805175	+	Silent	SNP	T	T	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr3:115805175T>C	ENST00000490035.1	-	2	883	c.384A>G	c.(382-384)gtA>gtG	p.V128V	LSAMP_ENST00000539563.1_Silent_p.V125V	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	128					cell adhesion|nervous system development	anchored to membrane|plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CCTTACCTTGTACGATCAAGT	0.438000													10	45					0	0	1	0	0
YARS	8565	broad.mit.edu	37	1	33245110	33245110	+	Missense_Mutation	SNP	C	C	T	rs147005844	byFrequency	TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr1:33245110C>T	ENST00000373477.4	-	12	2257	c.1349G>A	c.(1348-1350)cGc>cAc	p.R450H	YARS_ENST00000469100.1_5'UTR	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	450	tRNA-binding.				apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity	p.R450H(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	TTCAACCTGGCGGTTTATCCC	0.557000													19	29					0	0	1	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41739574	41739574	+	Missense_Mutation	SNP	T	T	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr22:41739574T>A	ENST00000352645.4	+	13	1710	c.1453T>A	c.(1453-1455)Tgc>Agc	p.C485S	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.C485S	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	501					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CTACTACCTGTGCAAAGGTGG	0.677000													11	12					0	0	1	0	0
SCPEP1	59342	broad.mit.edu	37	17	55062742	55062742	+	Missense_Mutation	SNP	G	G	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr17:55062742G>T	ENST00000262288.3	+	3	284	c.229G>T	c.(229-231)Ggt>Tgt	p.G77C	SCPEP1_ENST00000571898.1_3'UTR	NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	77					proteolysis	extracellular region	serine-type carboxypeptidase activity	p.G77S(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					TCCATAGGGCGGTCCAGGCGG	0.423000													17	51					5.01169e-05	5.27547e-05	1	1	0
WDR19	57728	broad.mit.edu	37	4	39230233	39230233	+	Silent	SNP	T	T	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr4:39230233T>C	ENST00000399820.3	+	17	2059	c.1905T>C	c.(1903-1905)caT>caC	p.H635H	WDR19_ENST00000515631.1_3'UTR|WDR19_ENST00000288634.7_Silent_p.H475H	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	635					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						TTAGCACCCATGGCTTTCTCA	0.428000													46	44					0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87780297	87780297	+	Splice_Site	SNP	G	G	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr7:87780297G>A	ENST00000398204.4	+	19	1891	c.1566_splice	c.e19-1	p.C523_splice	ADAM22_ENST00000398201.4_Splice_Site_p.C523_splice|ADAM22_ENST00000265727.7_Splice_Site_p.C523_splice|ADAM22_ENST00000398209.3_Splice_Site_p.C523_splice|ADAM22_ENST00000315984.7_Splice_Site_p.C523_splice	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	523	Disintegrin.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TTTTCCTAGTGTGCCCCTAAT	0.328000													25	15					0	0	1	0	0
ZNF418	147686	broad.mit.edu	37	19	58438844	58438844	+	Silent	SNP	A	A	G			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr19:58438844A>G	ENST00000396147.1	-	4	996	c.705T>C	c.(703-705)tgT>tgC	p.C235C	ZNF418_ENST00000599852.1_Silent_p.C150C|ZNF418_ENST00000595830.1_Silent_p.C235C|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000425570.3_Silent_p.C256C	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	235					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		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;0.0158)		AGGATTTCCCACATTCCCAGC	0.403000													11	55					0	0	1	0	0
OR5V1	81696	broad.mit.edu	37	6	29323301	29323301	+	Silent	SNP	G	G	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr6:29323301G>T	ENST00000377154.1	-	4	971	c.672C>A	c.(670-672)acC>acA	p.T224T	OR5V1_ENST00000543825.1_Silent_p.T224T			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TCCTCAAGATGGTGGAGATTA	0.468000													29	163					1.16021e-09	1.28912e-09	1	1	0
GRM3	0	broad.mit.edu	37	7	86416020	86416020	+	Silent	SNP	C	C	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr7:86416020C>T	ENST00000361669.2	+	3	2011	c.912C>T	c.(910-912)ggC>ggT	p.G304G	GRM3_ENST00000394720.2_Silent_p.G302G|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Silent_p.G304G|GRM3_ENST00000536043.1_Silent_p.G176G	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	304					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)	ACGGCTGGGGCGCGCAGGAGA	0.677000													19	49					0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	8995770	8995770	+	Missense_Mutation	SNP	A	A	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr12:8995770A>C	ENST00000299698.7	+	12	1469	c.1289A>C	c.(1288-1290)cAa>cCa	p.Q430P		NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	274						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						AATCCGGAACAAGTGCCACGT	0.483000													54	45					0	0	1	0	0
MDGA2	161357	broad.mit.edu	37	14	47324352	47324352	+	Missense_Mutation	SNP	A	A	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr14:47324352A>C	ENST00000426342.1	-	15	2610	c.1864T>G	c.(1864-1866)Tta>Gta	p.L622V	MDGA2_ENST00000357362.3_Missense_Mutation_p.L622V|MDGA2_ENST00000439988.2_Missense_Mutation_p.L851V|MDGA2_ENST00000399222.3_Missense_Mutation_p.L53V|MDGA2_ENST00000399232.2_Missense_Mutation_p.L920V	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	851	Ig-like 6.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TAAACATTTAAGACACCTAAA	0.308000													5	23					0	0	1	0	0
CEACAM20	125931	broad.mit.edu	37	19	45024554	45024554	+	RNA	SNP	G	G	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr19:45024554G>C	ENST00000454753.1	-	0	1262							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GGCTGCCCCAGTTCCAGACCT	0.617000													26	22					0	0	1	0	0
BRD3	8019	broad.mit.edu	37	9	136915512	136915512	+	Missense_Mutation	SNP	G	G	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr9:136915512G>T	ENST00000303407.7	-	5	883	c.698C>A	c.(697-699)aCg>aAg	p.T233K	BRD3_ENST00000357885.2_Missense_Mutation_p.T233K|BRD3_ENST00000371834.2_Missense_Mutation_p.T233K	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	233						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		GACAGGCGGCGTAGGAGGGAC	0.692000			T	C15orf55	lethal midline carcinoma of young people								57	2					1.74971e-23	2.10809e-23	1	1	0
CACNB4	785	broad.mit.edu	37	2	152711818	152711818	+	Missense_Mutation	SNP	C	C	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr2:152711818C>A	ENST00000360283.6	-	10	1098	c.841G>T	c.(841-843)Gac>Tac	p.D281Y	CACNB4_ENST00000201943.5_Missense_Mutation_p.D314Y|CACNB4_ENST00000397327.2_Missense_Mutation_p.D267Y|CACNB4_ENST00000539935.1_Missense_Mutation_p.D314Y|CACNB4_ENST00000534999.1_Missense_Mutation_p.D280Y|CACNB4_ENST00000427385.1_Missense_Mutation_p.D296Y			O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	314					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	TTGATGGTGTCTGCATCAAGA	0.373000													5	33					1.23904e-05	1.31813e-05	1	1	0
PUS7L	83448	broad.mit.edu	37	12	44148360	44148360	+	Missense_Mutation	SNP	T	T	G			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr12:44148360T>G	ENST00000416848.2	-	2	1177	c.689A>C	c.(688-690)aAa>aCa	p.K230T	PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000344862.5_Missense_Mutation_p.K230T|PUS7L_ENST00000551923.1_Missense_Mutation_p.K230T|PUS7L_ENST00000553166.1_Missense_Mutation_p.K230T	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	230					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		AAAGGTAAATTTGGAATTTTC	0.308000													6	40					0	0	1	0	0
TMEM130	222865	broad.mit.edu	37	7	98457843	98457843	+	Silent	SNP	G	G	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr7:98457843G>C	ENST00000450876.1	-	3	1573	c.258C>G	c.(256-258)ctC>ctG	p.L86L	TMEM130_ENST00000339375.4_Silent_p.L170L|TMEM130_ENST00000345589.4_Silent_p.L68L|TMEM130_ENST00000546258.1_Silent_p.L151L|TMEM130_ENST00000416379.2_Silent_p.L170L			Q8N3G9	TM130_HUMAN	transmembrane protein 130	170						Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGGCGGTCTTGAGGAAGTTGC	0.592000													14	29					0	0	1	0	0
RILPL1	353116	broad.mit.edu	37	12	124008056	124008056	+	Missense_Mutation	SNP	A	A	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr12:124008056A>T	ENST00000376874.4	-	2	681	c.446T>A	c.(445-447)tTc>tAc	p.F149Y		NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	149					neuroprotection	cytosol				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		ATGCTTCTGGAACTCCTCCTC	0.577000													22	79					0	0	1	0	0
CSRNP1	64651	broad.mit.edu	37	3	39185088	39185088	+	Missense_Mutation	SNP	C	C	G			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr3:39185088C>G	ENST00000273153.5	-	5	1405	c.1228G>C	c.(1228-1230)Gag>Cag	p.E410Q	CSRNP1_ENST00000514182.1_Missense_Mutation_p.E410Q	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	410					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						CTCCCTTCCTCCTCTTCCTCC	0.602000													11	49					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159642727	159642727	+	Splice_Site	SNP	A	A	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr6:159642727A>T	ENST00000297267.9	+	6	965	c.766_splice	c.e6+1	p.S255_splice	FNDC1_ENST00000480856.1_3'UTR|FNDC1_ENST00000340366.6_Splice_Site_p.S255_splice	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	255						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GAAAGATTTCAGGTATGTTTC	0.453000													3	33					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53611281	53611281	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chrX:53611281G>A	ENST00000342160.3	-	40	5483	c.5026C>T	c.(5026-5028)Cgc>Tgc	p.R1676C	HUWE1_ENST00000218328.8_Intron|HUWE1_ENST00000262854.6_Missense_Mutation_p.R1676C			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1676	WWE.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ATCACAGGGCGTCGGTTCCCT	0.438000													5	52					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150889670	150889670	+	Missense_Mutation	SNP	T	T	G			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr5:150889670T>G	ENST00000261800.5	-	21	11983	c.11971A>C	c.(11971-11973)Act>Cct	p.T3991P	CTC-251D13.1_ENST00000606930.1_RNA	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3991	EGF-like 2.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTGCAAAAGTACAGTTCTCC	0.522000													6	141					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100733115	100733115	+	Missense_Mutation	SNP	A	A	G			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr8:100733115A>G	ENST00000358544.2	+	39	7076	c.6965A>G	c.(6964-6966)tAt>tGt	p.Y2322C	VPS13B_ENST00000357162.2_Missense_Mutation_p.Y2297C|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2322					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCTGGGGTCTATGAAGTCTTA	0.348000													14	21					0	0	1	0	0
APP	351	broad.mit.edu	37	21	27277388	27277388	+	Splice_Site	SNP	A	A	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr21:27277388A>T	ENST00000357903.3	-	14	2020	c.1852_splice	c.e14-1	p.V618_splice	APP_ENST00000354192.3_Splice_Site_p.V506_splice|APP_ENST00000439274.2_Splice_Site_p.V581_splice|APP_ENST00000348990.5_Splice_Site_p.V562_splice|APP_ENST00000448388.2_Splice_Site_p.V527_splice|APP_ENST00000346798.3_Splice_Site_p.V637_splice|APP_ENST00000440126.3_Splice_Site_p.V613_splice|APP_ENST00000359726.3_Splice_Site_p.V581_splice|APP_ENST00000358918.3_Intron	NM_201413.2	NP_958816.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	637					adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CAACAGGCTCAACTGGGCACA	0.537000													10	13					0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53058029	53058029	+	Silent	SNP	G	G	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr19:53058029G>A	ENST00000359798.4	+	5	2040	c.1860G>A	c.(1858-1860)gaG>gaA	p.E620E		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	620					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		ATACTGGAGAGAAACCATACA	0.398000													35	34					0	0	1	0	0
FBLN1	2192	broad.mit.edu	37	22	45914649	45914649	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr22:45914649C>T	ENST00000348697.2	+	2	314	c.167C>T	c.(166-168)aCg>aTg	p.T56M	FBLN1_ENST00000402984.3_Missense_Mutation_p.T56M|FBLN1_ENST00000340923.5_Missense_Mutation_p.T56M|FBLN1_ENST00000327858.6_Missense_Mutation_p.T56M|FBLN1_ENST00000262722.7_Missense_Mutation_p.T56M|FBLN1_ENST00000442170.2_Missense_Mutation_p.T56M			P23142	FBLN1_HUMAN	fibulin 1	56	Anaphylatoxin-like 1.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CCATATGCTACGGAATCCAAA	0.562000													18	0					0	0	1	0	0
MT-RNR2	0	broad.mit.edu	37	MT	2004	2004	+	RNA	SNP	G	G	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chrM:2004G>A	ENST00000387347.2	+	0	334					NR_039705.1																						CAAACCTACCGAGCCTGGTGA	0.433000													63	3					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1652949	1652949	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr2:1652949C>T	ENST00000252804.4	-	17	2653	c.2603G>A	c.(2602-2604)cGg>cAg	p.R868Q		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	868					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GCTCCTGGCCCGGGAGTCATT	0.662000													17	31					0	0	1	0	0
SIL1	64374	broad.mit.edu	37	5	138282944	138282944	+	Silent	SNP	G	G	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr5:138282944G>C	ENST00000394817.2	-	10	1387	c.1248C>G	c.(1246-1248)ccC>ccG	p.P416P	SIL1_ENST00000515008.1_5'UTR|SIL1_ENST00000265195.5_Silent_p.P416P|SIL1_ENST00000509534.1_Silent_p.P423P	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor	416					intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGCCGAGCTGGGGGTCCTGAC	0.677000									Marinesco-Sjgren syndrome				34	21					0	0	1	0	0
MAN1B1	11253	broad.mit.edu	37	9	139981513	139981513	+	Missense_Mutation	SNP	C	C	G			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr9:139981513C>G	ENST00000371589.4	+	1	135	c.62C>G	c.(61-63)aCg>aGg	p.T21R		NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	21					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		GACTTCCTGACGCCGCCAGTG	0.687000													4	10					0	0	1	0	0
TAS2R30	259293	broad.mit.edu	37	12	11286029	11286029	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr12:11286029G>A	ENST00000539585.1	-	1	1214	c.815C>T	c.(814-816)cCt>cTt	p.P272L	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_001097643.1	NP_001091112.1			taste receptor, type 2, member 30											autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						GTGGGTTGAAGGATAGCTGAA	0.413000													94	52					0	0	1	0	0
GPR149	344758	broad.mit.edu	37	3	154056029	154056029	+	Missense_Mutation	SNP	C	C	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr3:154056029C>A	ENST00000389740.2	-	4	1754	c.1655G>T	c.(1654-1656)tGt>tTt	p.C552F		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	552						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CTGGAATGCACACAAGGGAAT	0.448000													61	135					3.7469e-33	4.56939e-33	1	1	0
PTGER4	5734	broad.mit.edu	37	5	40691917	40691917	+	Silent	SNP	T	T	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr5:40691917T>C	ENST00000302472.3	+	3	1928	c.904T>C	c.(904-906)Ttg>Ctg	p.L302L		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	302					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						TCAGCCAAGTTTGGAGCGAGA	0.413000													17	72					0	0	1	0	0
PTPN13	0	broad.mit.edu	37	4	87696407	87696407	+	Silent	SNP	T	T	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr4:87696407T>A	ENST00000436978.1	+	34	6087	c.5607T>A	c.(5605-5607)gtT>gtA	p.V1869V	PTPN13_ENST00000411767.2_Silent_p.V1864V|PTPN13_ENST00000427191.2_Silent_p.V1845V|PTPN13_ENST00000316707.6_Silent_p.V1673V|PTPN13_ENST00000511467.1_Silent_p.V1869V	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1864						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TCAGATTAGTTATTGGACGAG	0.388000													4	23					0	0	1	0	0
PPAN-P2RY11	0	broad.mit.edu	37	19	10221193	10221193	+	Missense_Mutation	SNP	C	C	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr19:10221193C>A	ENST00000428358.1	+	10	1106	c.934C>A	c.(934-936)Ctg>Atg	p.L312M	PPAN_ENST00000556468.1_Missense_Mutation_p.L312M|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.L312M|PPAN_ENST00000393793.1_Missense_Mutation_p.L259M|PPAN_ENST00000253107.7_Missense_Mutation_p.L312M	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	Q9NQ55	SSF1_HUMAN		312					RNA splicing	nucleolus	protein binding	p.L312V(4)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			GCAGGCCATCCTGGAAGCCAA	0.667000													10	150					9.70103e-10	1.09e-09	1	1	0
TRIP11	9321	broad.mit.edu	37	14	92506029	92506029	+	Translation_Start_Site	SNP	T	T	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr14:92506029T>C	ENST00000267622.4	-	1	374	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	TRIP11_ENST00000555105.1_5'UTR	NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CAGGACGACATCGCGGCGAGT	0.602000			T	PDGFRB	AML								6	2					0	0	1	0	0
GPATCH1	55094	broad.mit.edu	37	19	33604672	33604672	+	Splice_Site	SNP	G	G	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr19:33604672G>T	ENST00000170564.2	+	14	2206		c.e14-1			NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1							catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					TCAATTCCCAGTTCAACTTTA	0.433000													15	26					0.000422831	0.000435909	1	1	0
ELF1	1997	broad.mit.edu	37	13	41507845	41507845	+	Missense_Mutation	SNP	G	G	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr13:41507845G>C	ENST00000239882.3	-	9	1890	c.1576C>G	c.(1576-1578)Cca>Gca	p.P526A	ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Missense_Mutation_p.P502A	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	526					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		CTGAAGGATGGAGAGGAAGCC	0.512000													45	4					0	0	1	0	0
CXCL12	6387	broad.mit.edu	37	10	44873206	44873206	+	Silent	SNP	C	C	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr10:44873206C>A	ENST00000395794.2	-	4	457	c.414G>T	c.(412-414)ggG>ggT	p.G138G	CXCL12_ENST00000374426.2_Intron|CXCL12_ENST00000374429.2_Intron|CXCL12_ENST00000395793.3_Intron|CXCL12_ENST00000395795.4_Intron|CXCL12_ENST00000343575.6_3'UTR	NM_001178134.1	NP_001171605.1	P48061	SDF1_HUMAN	chemokine (C-X-C motif) ligand 12	0					blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity			endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Dexamethasone(DB01234)	ATTACACATCCCCAGGAGAGG	0.547000													16	11					4.14922e-12	4.88143e-12	1	1	0
EDAR	10913	broad.mit.edu	37	2	109513391	109513391	+	Missense_Mutation	SNP	G	G	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr2:109513391G>C	ENST00000409271.1	-	12	1858	c.1415C>G	c.(1414-1416)cCt>cGt	p.P472R	EDAR_ENST00000376651.1_Missense_Mutation_p.P472R|EDAR_ENST00000258443.2_Missense_Mutation_p.P440R			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	440					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						CTGGGAGGCAGGTGGCACAAC	0.592000													12	9					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577552	7577552	+	Missense_Mutation	SNP	C	C	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr17:7577552C>A	ENST00000420246.2	-	7	861	c.729G>T	c.(727-729)atG>atT	p.M243I	TP53_ENST00000413465.2_Missense_Mutation_p.M243I|TP53_ENST00000455263.2_Missense_Mutation_p.M243I|TP53_ENST00000269305.4_Missense_Mutation_p.M243I|TP53_ENST00000445888.2_Missense_Mutation_p.M243I|TP53_ENST00000359597.4_Missense_Mutation_p.M243I	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	243	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		M -> I (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|MG -> IS (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.0?(8)|p.M243I(7)|p.?(5)|p.M243_G244>IC(1)|p.M243fs*18(1)|p.G244fs*3(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.M243T(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(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)		TCATGCCGCCCATGCAGGAAC	0.582000		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)			30	2					4.34311e-12	5.05012e-12	1	1	0
IGHV4OR15-8	0	broad.mit.edu	37	15	22473333	22473333	+	RNA	SNP	A	A	G			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr15:22473333A>G	ENST00000557788.2	-	0	20																											CCAGGAGGAGAAAGAACCACA	0.512000													4	47					0	0	1	0	0
C15orf41	84529	broad.mit.edu	37	15	36872095	36872095	+	Missense_Mutation	SNP	G	G	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr15:36872095G>T	ENST00000566621.1	+	1	284	c.34G>T	c.(34-36)Gcc>Tcc	p.A12S	C15orf41_ENST00000569302.1_Missense_Mutation_p.A12S|C15orf41_ENST00000437989.2_Missense_Mutation_p.A12S	NM_001130010.1	NP_001123482.1	Q9Y2V0	CO041_HUMAN	chromosome 15 open reading frame 41	12							protein binding			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)		CGACGAGATAGCCCAGTGCCT	0.567000													8	11					1.26484e-09	1.38994e-09	1	1	0
PHLDB1	23187	broad.mit.edu	37	11	118506246	118506246	+	Missense_Mutation	SNP	C	C	G			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr11:118506246C>G	ENST00000361417.2	+	11	2926	c.2515C>G	c.(2515-2517)Cgc>Ggc	p.R839G	PHLDB1_ENST00000356063.5_Missense_Mutation_p.R839G|PHLDB1_ENST00000534672.1_3'UTR	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	839										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TGAGCTGCTCCGCAGCATCGC	0.632000													17	56					0	0	1	0	0
NAA15	80155	broad.mit.edu	37	4	140278710	140278710	+	Splice_Site	SNP	G	G	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr4:140278710G>A	ENST00000296543.5	+	11	1580		c.e11+1		NAA15_ENST00000398947.1_Splice_Site	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit						angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						AATCTATAAGGTAAAAATCTT	0.284000													6	4					0	0	1	0	0
PRPH2	5961	broad.mit.edu	37	6	42689572	42689572	+	Silent	SNP	G	G	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr6:42689572G>T	ENST00000230381.5	-	1	740	c.501C>A	c.(499-501)ggC>ggA	p.G167G		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	167			G -> D (in PDREP; butterfly-shaped).|G -> S (in PDREP; butterfly-shaped).		cell adhesion|visual perception	integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			AACCGTTGTTGCCGCAGCATT	0.502000													22	234					7.41877e-09	8.06388e-09	1	1	0
ZNF326	284695	broad.mit.edu	37	1	90484253	90484253	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr1:90484253G>A	ENST00000340281.4	+	9	1227	c.1084G>A	c.(1084-1086)Gtg>Atg	p.V362M	ZNF326_ENST00000370447.2_Missense_Mutation_p.V273M|ZNF326_ENST00000455342.2_Missense_Mutation_p.V156M	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		GGAGTGTATGGTGAATAAATT	0.289000													12	11					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6696569	6696569	+	Missense_Mutation	SNP	A	A	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr12:6696569A>C	ENST00000309577.6	-	25	4023	c.3860T>G	c.(3859-3861)gTa>gGa	p.V1287G	CHD4_ENST00000544484.1_Missense_Mutation_p.V1284G|CHD4_ENST00000357008.2_Missense_Mutation_p.V1287G|CHD4_ENST00000544040.1_Missense_Mutation_p.V1280G|CHD4_ENST00000540960.1_5'UTR			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1287					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TTCTTCCCGTACCACATACTG	0.448000													35	66					0	0	1	0	0
PPHLN1	51535	broad.mit.edu	37	12	42745780	42745780	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr12:42745780G>A	ENST00000395568.2	+	3	250	c.166G>A	c.(166-168)Gtt>Att	p.V56I	PPHLN1_ENST00000432191.2_Intron|PPHLN1_ENST00000358314.7_Missense_Mutation_p.V56I|PPHLN1_ENST00000550535.1_3'UTR|PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000337898.6_Intron|PPHLN1_ENST00000549190.1_Missense_Mutation_p.V74I|PPHLN1_ENST00000449194.2_Missense_Mutation_p.V56I|PPHLN1_ENST00000552761.1_Intron|PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000395580.3_Missense_Mutation_p.V63I	NM_016488.6	NP_057572.5	Q8NEY8	PPHLN_HUMAN	periphilin 1	56					keratinization	cytoplasm|nucleus				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		TTACAGTCATGTTGATTACCG	0.423000													15	30					0	0	1	0	0
MGLL	11343	broad.mit.edu	37	3	127439984	127439984	+	Missense_Mutation	SNP	G	G	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr3:127439984G>C	ENST00000434178.2	-	5	1288	c.392C>G	c.(391-393)aCg>aGg	p.T131R	MGLL_ENST00000265052.5_Missense_Mutation_p.T141R|MGLL_ENST00000398104.1_Missense_Mutation_p.T131R|MGLL_ENST00000453507.2_Missense_Mutation_p.T141R|MGLL_ENST00000398101.3_Missense_Mutation_p.T105R			Q99685	MGLL_HUMAN	monoglyceride lipase	131					arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						CTCTGCGGCCGTGAGGATGGC	0.537000													22	60					0	0	1	0	0
DPF1	0	broad.mit.edu	37	19	38713335	38713335	+	Missense_Mutation	SNP	A	A	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr19:38713335A>C	ENST00000416611.1	-	2	169	c.46T>G	c.(46-48)Ttc>Gtc	p.F16V	DPF1_ENST00000414789.1_5'UTR|DPF1_ENST00000456296.1_Missense_Mutation_p.F16V|DPF1_ENST00000420980.2_Missense_Mutation_p.F42V|DPF1_ENST00000412732.1_5'UTR|DPF1_ENST00000355526.4_Missense_Mutation_p.F42V			Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	42					induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCGCGGTAGAAGTCCTCGCCT	0.731000													8	13					0	0	1	0	0
NR4A1	0	broad.mit.edu	37	12	52448894	52448894	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr12:52448894G>A	ENST00000545748.1	+	3	1939	c.944G>A	c.(943-945)gGt>gAt	p.G315D	NR4A1_ENST00000243050.1_Missense_Mutation_p.G261D|NR4A1_ENST00000548232.1_Missense_Mutation_p.G261D|NR4A1_ENST00000360284.3_Missense_Mutation_p.G274D|NR4A1_ENST00000550082.1_Missense_Mutation_p.G274D|NR4A1_ENST00000394824.2_Missense_Mutation_p.G261D|NR4A1_ENST00000394825.1_Missense_Mutation_p.G261D			P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	261					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		GGGGCCCCAGGTGGAAGTGAA	0.612000													45	48					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77713331	77713331	+	Translation_Start_Site	SNP	G	G	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr13:77713331G>A	ENST00000360084.5	-	0	7637				MYCBP2_ENST00000544440.2_Splice_Site_p.D2515_splice|MYCBP2_ENST00000357337.6_Splice_Site_p.D2515_splice|MYCBP2_ENST00000407578.2_Splice_Site_p.D2553_splice			O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTTTACTTACGTCAACAGGGA	0.383000													4	76					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235972583	235972583	+	Missense_Mutation	SNP	T	T	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr1:235972583T>C	ENST00000389794.3	-	5	1709	c.1535A>G	c.(1534-1536)cAt>cGt	p.H512R	LYST_ENST00000536965.1_Missense_Mutation_p.H512R|LYST_ENST00000389793.2_Missense_Mutation_p.H512R			Q99698	LYST_HUMAN	lysosomal trafficking regulator	512					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ATCTCGGTGATGATGCATAAA	0.383000													44	23					0	0	1	0	0
ADAM17	6868	broad.mit.edu	37	2	9663433	9663433	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr2:9663433C>T	ENST00000310823.3	-	7	970	c.788G>A	c.(787-789)cGg>cAg	p.R263Q	ADAM17_ENST00000497134.1_Missense_Mutation_p.R263Q	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	263	Peptidase M12B.				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		TGAAGTGTTCCGATAGATGTC	0.323000													34	28					0	0	1	0	0
HIF1AN	55662	broad.mit.edu	37	10	102300458	102300458	+	Missense_Mutation	SNP	A	A	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr10:102300458A>C	ENST00000299163.5	+	3	596	c.496A>C	c.(496-498)Aac>Cac	p.N166H	HIF1AN_ENST00000528044.1_3'UTR	NM_017902.2	NP_060372.2	Q9NWT6	HIF1N_HUMAN	hypoxia inducible factor 1, alpha subunit inhibitor	166	Interaction with HIF1A.|Interaction with VHL.|JmjC.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|protein binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	10		Colorectal(252;0.234)		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)		CTTAGGTTTTAACTGGAACTG	0.448000													39	7					0	0	1	0	0
ACVR1B	91	broad.mit.edu	37	12	52387803	52387803	+	Missense_Mutation	SNP	G	G	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr12:52387803G>T	ENST00000257963.4	+	9	1504	c.1427G>T	c.(1426-1428)tGt>tTt	p.C476F	ACVR1B_ENST00000541224.1_Missense_Mutation_p.C517F|ACVR1B_ENST00000542485.1_Missense_Mutation_p.C424F	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	476	Protein kinase.				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	ATGCGAGAGTGTTGGTATGCC	0.607000													59	51					2.14255e-21	2.55065e-21	1	1	0
SPTBN5	51332	broad.mit.edu	37	15	42178339	42178339	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr15:42178339G>A	ENST00000320955.6	-	7	1341	c.1114C>T	c.(1114-1116)Cgg>Tgg	p.R372W		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	372					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)		GTCTGTAGCCGGAAGAGCAGG	0.672000													12	1					0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48347056	48347056	+	Silent	SNP	C	C	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr11:48347056C>A	ENST00000319856.4	+	1	585	c.564C>A	c.(562-564)gtC>gtA	p.V188V		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TCCTCCTGGTCCTTTGGTTGC	0.517000													7	83					1.02788e-11	1.18148e-11	1	1	0
DICER1	23405	broad.mit.edu	37	14	95557638	95557638	+	Missense_Mutation	SNP	T	T	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr14:95557638T>A	ENST00000526495.1	-	27	5720	c.5429A>T	c.(5428-5430)gAt>gTt	p.D1810V	DICER1_ENST00000527414.1_Missense_Mutation_p.D1810V|DICER1_ENST00000343455.3_Missense_Mutation_p.D1810V|DICER1_ENST00000556045.1_Missense_Mutation_p.D708V|DICER1_ENST00000541352.1_Intron|DICER1_ENST00000393063.1_Missense_Mutation_p.D1810V|DICER1_ENST00000527416.2_5'UTR			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1810	RNase III 2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.D1810A(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CTCAAAAATATCCCCCATGGC	0.453000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				115	122					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31605884	31605884	+	Missense_Mutation	SNP	G	G	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr2:31605884G>C	ENST00000379416.3	-	11	1069	c.1021C>G	c.(1021-1023)Caa>Gaa	p.Q341E	XDH_ENST00000491727.1_5'UTR	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	341	FAD-binding PCMH-type.				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GACTTGACTTGCTTCCCAGCA	0.557000													32	22					0	0	1	0	0
SYNGR3	9143	broad.mit.edu	37	16	2042103	2042103	+	Silent	SNP	C	C	G			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr16:2042103C>G	ENST00000248121.2	+	2	386	c.228C>G	c.(226-228)ctC>ctG	p.L76L	SYNGR3_ENST00000562045.1_5'UTR	NM_004209.5	NP_004200.2	O43761	SNG3_HUMAN	synaptogyrin 3	76	MARVEL.				positive regulation of transporter activity	cell junction|integral to plasma membrane|synaptic vesicle				endometrium(1)|lung(2)	3						CGCTGGGCCTCGGAGCCTTCC	0.706000													10	5					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82764634	82764634	+	Silent	SNP	C	C	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr7:82764634C>T	ENST00000423517.2	-	3	2569	c.2232G>A	c.(2230-2232)caG>caA	p.Q744Q	PCLO_ENST00000333891.8_Silent_p.Q744Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	690	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGGCCTTGTCCTGCTCAGATG	0.517000													14	40					0	0	1	0	0
KCNA3	3738	broad.mit.edu	37	1	111217391	111217393	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr1:111217391_111217393delGGC	ENST00000369769.2	-	1	262_264	c.39_41delGCC	c.(37-42)ccc>cc	p.PP13del		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	13						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCGGGCTGAGGGCGGCGGCGGCG	0.768													2	4	---	---	---	---					
RP11-444A22.1	0	broad.mit.edu	37	2	60303300	60303301	+	RNA	DEL	AC	AC	-			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr2:60303300_60303301delAC	ENST00000606382.1	-	0	110																											gaacacatggacacagggaggg	0.500													2	4	---	---	---	---					
RP11-550I24.2	0	broad.mit.edu	37	3	156916153	156916153	+	RNA	DEL	A	A	-			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr3:156916153delA	ENST00000488040.1	+	0	43				RP11-550I24.2_ENST00000487238.1_RNA																							ctcatgttctaaaattgtgca	0.378													2	4	---	---	---	---					
SLC51A	200931	broad.mit.edu	37	3	195955100	195955102	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr3:195955100_195955102delCTG	ENST00000296327.5	+	5	686_688	c.477_479delCTG	c.(475-480)ccc>cc	p.PC159del		NM_152672.5	NP_689885.4			solute carrier family 51, alpha subunit																		ACACAGGCCCctgctgctgctgc	0.665													7	201	---	---	---	---					
AF146191.4	0	broad.mit.edu	37	4	190767268	190767268	+	RNA	DEL	C	C	-	rs67659129		TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr4:190767268delC	ENST00000511785.1	-	0	425																											ATTCTCCGTGCCGTGTCCCTC	0.627													2	4	---	---	---	---					
RP1-290I10.3	0	broad.mit.edu	37	6	10423824	10423825	+	RNA	INS	-	-	TGTG	rs61052278		TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr6:10423824_10423825insTGTG	ENST00000420389.1	-	0	175																											TGGAGAACTGCtgtgtgtgtgt	0.490													2	4	---	---	---	---					
RP11-706C16.8	0	broad.mit.edu	37	8	143889647	143889649	+	RNA	DEL	GCA	GCA	-			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr8:143889647_143889649delGCA	ENST00000510610.2	+	0	216																											GGGCAGGGTCGCAGCAGCAGCAG	0.631													2	4	---	---	---	---					
ATP8B5P	0	broad.mit.edu	37	9	35450411	35450411	+	RNA	DEL	T	T	-			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr9:35450411delT	ENST00000430846.1	+	0	3261																											TGACTTGAGGTTTTTTTTTCC	0.343													2	4	---	---	---	---					
RP11-262H14.1	0	broad.mit.edu	37	9	66462287	66462288	+	RNA	INS	-	-	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr9:66462287_66462288insA	ENST00000424345.1	+	0	224																											gggctttttgggggttggtagg	0.391													2	4	---	---	---	---					
IL18BP	10068	broad.mit.edu	37	11	71712330	71712332	+	In_Frame_Del	DEL	ATT	ATT	-			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr11:71712330_71712332delATT	ENST00000497194.2	+	3	1691_1693	c.319_321delATT	c.(319-321)del	p.I107del	IL18BP_ENST00000260049.5_In_Frame_Del_p.I107del|IL18BP_ENST00000393703.4_In_Frame_Del_p.I107del|IL18BP_ENST00000531053.1_In_Frame_Del_p.I107del|IL18BP_ENST00000393705.4_In_Frame_Del_p.I107del|IL18BP_ENST00000393707.4_Intron|IL18BP_ENST00000337131.5_In_Frame_Del_p.I107del|IL18BP_ENST00000404792.1_In_Frame_Del_p.I107del			O95998	I18BP_HUMAN	interleukin 18 binding protein	107	Ig-like C2-type.				T-helper 1 type immune response	extracellular region	interleukin-18 binding|receptor antagonist activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						TGGTTCCTTCATTGAGCACCTCC	0.611													30	26	---	---	---	---					
AP002954.4	0	broad.mit.edu	37	11	118580965	118580966	+	RNA	INS	-	-	TTTA	rs139437602	by1000genomes	TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr11:118580965_118580966insTTTA	ENST00000526274.1	+	0	374																											agccCCCCGACtttatttttga	0.530													3	3	---	---	---	---					
CTD-2314B22.3	0	broad.mit.edu	37	14	19891054	19891055	+	RNA	DEL	CT	CT	-			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr14:19891054_19891055delCT	ENST00000552602.1	-	0	293																											tacacacacactcacactaaca	0.525													4	6	---	---	---	---					
RP3-514A23.2	0	broad.mit.edu	37	14	73041049	73041049	+	RNA	DEL	G	G	-			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr14:73041049delG	ENST00000555303.1	-	0	451																											GCCTCCTCCCGCCCCCTCCAC	0.592													2	4	---	---	---	---					
RP11-44L9.1	0	broad.mit.edu	37	16	73517967	73517967	+	RNA	DEL	G	G	-			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr16:73517967delG	ENST00000557393.1	+	0	117																											AGGAGGGTCCGGGGGGAAGAG	0.517													2	4	---	---	---	---					
ANKFY1	51479	broad.mit.edu	37	17	4071081	4071086	+	In_Frame_Del	DEL	CCCCAC	CCCCAC	-			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr17:4071081_4071086delCCCCAC	ENST00000341657.4	-	25	3532_3537	c.3497_3502delGTGGGG	c.(3496-3504)gtt>g	p.GGV1166del	ANKFY1_ENST00000574367.1_In_Frame_Del_p.GGV1167del|CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000570535.1_In_Frame_Del_p.GGV1208del	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	1166						endosome membrane	metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CACTAAGAAACCCCACCCAGAGTCAG	0.544													19	4	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7577134	7577134	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr17:7577134delG	ENST00000420246.2	-	8	936	c.804delC	c.(802-804)aafs	p.N268fs	TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Frame_Shift_Del_p.N268fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.N268fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.N268fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.N268fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	268	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		N -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|N -> H (in sporadic cancers; somatic mutation).|N -> I (in sporadic cancers; somatic mutation).|N -> K (in a sporadic cancer; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> Y (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.0?(8)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.N268N(2)|p.?(2)|p.G262_S269delGNLLGRNS(2)|p.L265_K305del41(1)|p.E258fs*71(1)|p.G266_N268delGRN(1)|p.G262fs*2(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)		CCTCAAAGCTGTTCCGTCCCA	0.537		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)			16	2	---	---	---	---					
RP1-41C23.1	0	broad.mit.edu	37	17	29921885	29921886	+	RNA	INS	-	-	TTGT	rs139893247	by1000genomes	TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr17:29921885_29921886insTTGT	ENST00000578650.1	+	0	232																											AAGGCtgtttgttgtttgtttg	0.485													4	2	---	---	---	---					
ZCCHC3	85364	broad.mit.edu	37	20	278688	278690	+	In_Frame_Del	DEL	CGG	CGG	-	rs63544660		TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr20:278688_278690delCGG	ENST00000382352.3	+	1	952_954	c.461_463delCGG	c.(460-465)ccg>c	p.PA154del		NM_033089.6	NP_149080.2	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	154							nucleic acid binding|zinc ion binding	p.A159delA(3)		endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CAGGATGAgccggcggcggcggc	0.768													4	3	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11057307	11057308	+	RNA	INS	-	-	A	rs76234576		TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr21:11057307_11057308insA	ENST00000470054.1	-	0	487									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAGAAGATAGGAAAAAAAGCTT	0.342													4	6	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11062428	11062429	+	RNA	DEL	TG	TG	-	rs113753618		TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr21:11062428_11062429delTG	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CATTTATGTATGTGTGTGTGTG	0.297													2	4	---	---	---	---					
GPRASP1	9737	broad.mit.edu	37	X	101912011	101912011	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chrX:101912011delG	ENST00000537097.1	+	6	3983	c.3170delG	c.(3169-3171)tgfs	p.W1057fs	GPRASP1_ENST00000415986.1_Frame_Shift_Del_p.W1057fs|GPRASP1_ENST00000444152.1_Frame_Shift_Del_p.W1057fs|GPRASP1_ENST00000361600.5_Frame_Shift_Del_p.W1057fs|RP4-769N13.7_ENST00000602441.1_RNA	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1057	OPRD1-binding.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CCTGGTCCATGGGGTAGGGTC	0.517													104	135	---	---	---	---					
